Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7224499A>C , CM000679.2:g.7224499A>C	GRCh38
NC_000017.10:g.7127818A>C , CM000679.1:g.7127818A>C	GRCh37
NC_000017.9:g.7068542A>C	NCBI36
NG_007975.1:g.9666A>C
NG_008391.2:g.552T>G
NG_033038.1:g.15046T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1625A>C MANE Select	ENSP00000349297.5:p.Gln542Pro
ENST00000322910.9:c.*1580A>C	ENSP00000325395.5:n.*1580A>C
ENST00000350303.9:c.1559A>C	ENSP00000344152.5:p.Gln520Pro
ENST00000356839.9:c.1625A>C	ENSP00000349297.5:p.Gln542Pro
ENST00000542255.6:c.483A>C
ENST00000543245.6:c.1694A>C	ENSP00000438689.2:p.Gln565Pro
ENST00000578319.5:n.206A>C
ENST00000578711.1:n.995A>C
ENST00000578809.5:n.197A>C
ENST00000579391.1:n.229A>C
ENST00000579425.5:n.741A>C
ENST00000579546.1:c.360A>C
ENST00000579894.5:n.412A>C
ENST00000582450.1:n.133A>C
ENST00000583074.5:n.246A>C
ENST00000583848.5:c.11A>C	ENSP00000466487.1:p.Gln4Pro
ENST00000583850.5:n.396A>C
ENST00000583858.5:c.556A>C
ENST00000585203.6:n.816A>C
NM_000018.3:c.1625A>C	NP_000009.1:p.Gln542Pro
NM_001033859.2:c.1559A>C	NP_001029031.1:p.Gln520Pro
NM_001270447.1:c.1694A>C	NP_001257376.1:p.Gln565Pro
NM_001270448.1:c.1397A>C	NP_001257377.1:p.Gln466Pro
XM_006721516.2:c.1625A>C	XP_006721579.2:p.Gln542Pro
XM_011523829.1:c.1523A>C	XP_011522131.1:p.Gln508Pro
XM_011523830.1:c.1523A>C	XP_011522132.1:p.Gln508Pro
XR_934021.1:n.1728A>C
XR_934022.1:n.1634A>C
XR_934023.1:n.1634A>C
XM_006721516.3:c.1625A>C	XP_006721579.2:p.Gln542Pro
XM_011523829.2:c.1523A>C	XP_011522131.1:p.Gln508Pro
XM_011523830.2:c.1523A>C	XP_011522132.1:p.Gln508Pro
XM_024450741.1:c.1613A>C	XP_024306509.1:p.Gln538Pro
XR_934021.2:n.1680A>C
XR_934022.2:n.1586A>C
XR_934023.2:n.1586A>C
NM_000018.4:c.1625A>C MANE Select	NP_000009.1:p.Gln542Pro
NM_001033859.3:c.1559A>C	NP_001029031.1:p.Gln520Pro
NM_001270447.2:c.1694A>C	NP_001257376.1:p.Gln565Pro
NM_001270448.2:c.1397A>C	NP_001257377.1:p.Gln466Pro

Linked Data

Genomic Alleles

Transcript Alleles