Canonical Allele Identifier: CA397723319
Gene: ACADVL HGNC NCBI

Linked Data

dbSNP Id: rs2071250589
MyVariant Identifiers: chr17:g.7125264C>A (hg19) chr17:g.7221945C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7221945C>A , CM000679.2:g.7221945C>A GRCh38
NC_000017.10:g.7125264C>A , CM000679.1:g.7125264C>A GRCh37
NC_000017.9:g.7065988C>A NCBI36
NG_007975.1:g.7112C>A
NG_008391.2:g.3106G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.623-7C>A MANE Select ENSP00000349297.5:n.623-7C>A
ENST00000322910.9:c.*578-7C>A ENSP00000325395.5:n.*578-7C>A
ENST00000350303.9:c.557-7C>A ENSP00000344152.5:n.557-7C>A
ENST00000356839.9:c.623-7C>A ENSP00000349297.5:n.623-7C>A
ENST00000543245.6:c.692-7C>A ENSP00000438689.2:n.692-7C>A
ENST00000577191.5:n.700-7C>A
ENST00000577857.5:n.439-7C>A
ENST00000579286.5:n.804-7C>A
ENST00000579886.2:c.461-7C>A ENSP00000463246.1:n.461-7C>A
ENST00000580365.1:n.354-7C>A
ENST00000581378.5:c.341-7C>A
ENST00000581562.5:n.525-7C>A
ENST00000583312.5:c.631C>A ENSP00000467920.1:p.Pro211Thr
ENST00000583760.1:n.405-7C>A
NM_000018.3:c.623-7C>A NP_000009.1:n.623-7C>A
NM_001033859.2:c.557-7C>A NP_001029031.1:n.557-7C>A
NM_001270447.1:c.692-7C>A NP_001257376.1:n.692-7C>A
NM_001270448.1:c.395-7C>A NP_001257377.1:n.395-7C>A
XM_006721516.2:c.623-7C>A XP_006721579.2:n.623-7C>A
XM_011523829.1:c.623-7C>A XP_011522131.1:n.623-7C>A
XM_011523830.1:c.623-7C>A XP_011522132.1:n.623-7C>A
XR_934021.1:n.730-7C>A
XR_934022.1:n.730-7C>A
XR_934023.1:n.730-7C>A
XM_006721516.3:c.623-7C>A XP_006721579.2:n.623-7C>A
XM_011523829.2:c.623-7C>A XP_011522131.1:n.623-7C>A
XM_011523830.2:c.623-7C>A XP_011522132.1:n.623-7C>A
XM_024450741.1:c.623-7C>A XP_024306509.1:n.623-7C>A
XR_934021.2:n.682-7C>A
XR_934022.2:n.682-7C>A
XR_934023.2:n.682-7C>A
NM_000018.4:c.623-7C>A MANE Select NP_000009.1:n.623-7C>A
NM_001033859.3:c.557-7C>A NP_001029031.1:n.557-7C>A
NM_001270447.2:c.692-7C>A NP_001257376.1:n.692-7C>A
NM_001270448.2:c.395-7C>A NP_001257377.1:n.395-7C>A
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