Canonical Allele Identifier: CA3287084

Gene: SREK1

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.66164886A>C , CM000667.2:g.66164886A>C	GRCh38
NC_000005.9:g.65460714A>C , CM000667.1:g.65460714A>C	GRCh37
NC_000005.8:g.65496470A>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_001077199.3:c.990A>C MANE Select	NP_001070667.1:p.Gln330His
ENST00000334121.11:c.990A>C MANE Select	ENSP00000334538.6:p.Gln330His
NM_001077199.2:c.990A>C	NP_001070667.1:p.Gln330His
NM_001270492.1:c.642A>C	NP_001257421.1:p.Gln214His
NM_001270492.2:c.642A>C	NP_001257421.1:p.Gln214His
NM_001323527.1:c.642A>C	NP_001310456.1:p.Gln214His
NM_001323527.2:c.642A>C	NP_001310456.1:p.Gln214His
NM_001323529.1:c.990A>C	NP_001310458.1:p.Gln330His
NM_001323529.2:c.990A>C	NP_001310458.1:p.Gln330His
NM_001323533.1:c.990A>C	NP_001310462.1:p.Gln330His
NM_001323533.2:c.990A>C	NP_001310462.1:p.Gln330His
NM_001323534.1:c.195A>C	NP_001310463.1:p.Gln65His
NM_001323534.2:c.195A>C	NP_001310463.1:p.Gln65His
NM_001323535.1:c.195A>C	NP_001310464.1:p.Gln65His
NM_001323535.2:c.195A>C	NP_001310464.1:p.Gln65His
NM_139168.3:c.642A>C	NP_631907.1:p.Gln214His
NM_139168.4:c.642A>C	NP_631907.1:p.Gln214His
ENST00000284041.7:n.923A>C
ENST00000334121.10:c.990A>C	ENSP00000334538.6:p.Gln330His
ENST00000380918.7:c.642A>C	ENSP00000370305.3:p.Gln214His
ENST00000519259.5:n.1304A>C
ENST00000520580.5:n.2007A>C
ENST00000520953.5:c.*785A>C	ENSP00000428970.1:n.*785A>C
ENST00000522912.5:c.*715A>C	ENSP00000427935.1:n.*715A>C
ENST00000523655.1:c.410A>C
ENST00000524111.5:n.3899A>C
XM_005248439.1:c.642A>C	XP_005248496.1:p.Gln214His
XM_005248440.2:c.195A>C	XP_005248497.1:p.Gln65His
XM_006714535.1:c.990A>C	XP_006714598.1:p.Gln330His
XM_011543170.1:c.990A>C	XP_011541472.1:p.Gln330His
XM_011543171.1:c.642A>C	XP_011541473.1:p.Gln214His
XM_011543171.3:c.642A>C	XP_011541473.1:p.Gln214His
XM_017009055.2:c.990A>C	XP_016864544.1:p.Gln330His
XM_017009056.1:c.195A>C	XP_016864545.1:p.Gln65His
XR_948236.1:n.1218A>C
XR_948236.3:n.1239A>C