Canonical Allele Identifier: CA211324
Community Standard Title: NM_000020.3(ACVRL1):c.1445C>T (p.Ala482Val)
Gene: ACVRL1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.51920826C>T , CM000674.2:g.51920826C>T GRCh38
NC_000012.11:g.52314610C>T , CM000674.1:g.52314610C>T GRCh37
NC_000012.10:g.50600877C>T NCBI36
NG_009549.1:g.18409C>T , LRG_543:g.18409C>T

Transcript Alleles

HGVS Amino-acid Change
NM_000020.3:c.1445C>T MANE Select NP_000011.2:p.Ala482Val
ENST00000388922.9:c.1445C>T MANE Select ENSP00000373574.4:p.Ala482Val
NM_000020.2:c.1445C>T , LRG_543t1:c.1445C>T NP_000011.2:p.Ala482Val
NM_001077401.1:c.1445C>T NP_001070869.1:p.Ala482Val
NM_001077401.2:c.1445C>T NP_001070869.1:p.Ala482Val
ENST00000388922.8:c.1445C>T ENSP00000373574.4:p.Ala482Val
ENST00000419526.6:c.923C>T ENSP00000392492.2:p.Ala308Val
ENST00000547400.6:c.1175C>T ENSP00000446724.2:p.Ala392Val
ENST00000550683.5:c.1487C>T ENSP00000447884.1:p.Ala496Val
ENST00000551576.6:c.1445C>T ENSP00000455848.2:p.Ala482Val
XM_005269235.2:c.1445C>T XP_005269292.1:p.Ala482Val
XM_011539008.1:c.1175C>T XP_011537310.1:p.Ala392Val
XM_024449279.1:c.656C>T XP_024305047.1:p.Ala219Val
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