Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.158146911G>T , CM000668.2:g.158146911G>T	GRCh38
NC_000006.11:g.158567943G>T , CM000668.1:g.158567943G>T	GRCh37
NC_000006.10:g.158487931G>T	NCBI36
NG_032889.1:g.26370C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000607071.6:c.*192C>A	ENSP00000475855.1:n.*192C>A
ENST00000642244.1:c.268C>A	ENSP00000493554.1:p.Pro90Thr
ENST00000642903.1:c.358C>A	ENSP00000493559.1:p.Pro120Thr
ENST00000643093.1:n.408C>A
ENST00000644972.1:c.358C>A	ENSP00000496451.1:p.Pro120Thr
ENST00000645077.1:c.*192C>A	ENSP00000496113.1:n.*192C>A
ENST00000645172.1:c.*189+1954C>A	ENSP00000495367.1:n.*189+1954C>A
ENST00000646190.1:n.1589C>A
ENST00000646208.1:c.94C>A	ENSP00000493723.1:p.Pro32Thr
ENST00000646410.1:c.229C>A	ENSP00000494205.1:p.Pro77Thr
ENST00000646562.1:c.*192C>A	ENSP00000496087.1:n.*192C>A
ENST00000647468.2:c.358C>A MANE Select	ENSP00000496731.1:p.Pro120Thr
ENST00000648111.1:c.*2C>A	ENSP00000497275.1:n.*2C>A
ENST00000367101.5:c.358C>A	ENSP00000356068.1:p.Pro120Thr
ENST00000367104.7:c.358C>A	ENSP00000356071.3:p.Pro120Thr
ENST00000606965.5:c.358C>A	ENSP00000475808.1:p.Pro120Thr
ENST00000607000.1:c.358C>A	ENSP00000475788.1:p.Pro120Thr
ENST00000607071.5:c.*192C>A	ENSP00000475855.1:n.*192C>A
ENST00000607742.5:c.*192C>A	ENSP00000475523.1:n.*192C>A
NM_032861.3:c.358C>A	NP_116250.3:p.Pro120Thr
NR_073096.1:n.500C>A
XM_006715586.1:c.148C>A	XP_006715649.1:p.Pro50Thr
XM_011536196.1:c.337C>A	XP_011534498.1:p.Pro113Thr
XM_011536197.1:c.358C>A	XP_011534499.1:p.Pro120Thr
XM_011536198.1:c.148C>A	XP_011534500.1:p.Pro50Thr
XR_942606.1:n.359C>A
XM_006715586.3:c.148C>A	XP_006715649.1:p.Pro50Thr
XM_011536196.3:c.337C>A	XP_011534498.1:p.Pro113Thr
XM_011536198.3:c.148C>A	XP_011534500.1:p.Pro50Thr
XM_024446573.1:c.358C>A	XP_024302341.1:p.Pro120Thr
XR_001743697.2:n.439C>A
XR_942606.2:n.490C>A
NM_032861.4:c.358C>A MANE Select	NP_116250.3:p.Pro120Thr
NR_073096.2:n.482C>A

Linked Data

Genomic Alleles

Transcript Alleles