Canonical Allele Identifier: CA1311945

Gene: CRB1

Linked Data

• dbSNP Id: rs564623773
• ExAC: 1:197390599 G / A
• gnomAD v2: 1-197390599-G-A
• gnomAD v3: 1-197421469-G-A
• gnomAD v4: 1-197421469-G-A
• MyVariant Identifiers: chr1:g.197390599G>A (hg19) ; chr1:g.197421469G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197421469G>A , CM000663.2:g.197421469G>A	GRCh38
NC_000001.10:g.197390599G>A , CM000663.1:g.197390599G>A	GRCh37
NC_000001.9:g.195657222G>A	NCBI36
NG_008483.1:g.158192G>A
NG_008483.2:g.225008G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367400.8:c.1641G>A MANE Select	ENSP00000356370.3:p.Gln547=
ENST00000638467.1:c.1641G>A	ENSP00000491102.1:p.Gln547=
ENST00000681519.1:c.522G>A	ENSP00000505267.1:p.Gln174=
ENST00000367397.1:c.-217G>A	ENSP00000356367.1:n.-217G>A
ENST00000367399.6:c.1305G>A	ENSP00000356369.2:p.Gln435=
ENST00000367400.7:c.1641G>A	ENSP00000356370.3:p.Gln547=
ENST00000484075.5:c.1641G>A	ENSP00000433932.1:p.Gln547=
ENST00000535699.5:c.1434G>A	ENSP00000438786.1:p.Gln478=
ENST00000538660.5:c.1641G>A	ENSP00000438091.1:p.Gln547=
NM_001193640.1:c.1305G>A	NP_001180569.1:p.Gln435=
NM_001257965.1:c.1434G>A	NP_001244894.1:p.Gln478=
NM_001257966.1:c.1641G>A	NP_001244895.1:p.Gln547=
NM_201253.2:c.1641G>A	NP_957705.1:p.Gln547=
NR_047563.1:n.1850G>A
NR_047564.1:n.1850G>A
XM_011509365.1:c.1641G>A	XP_011507667.1:p.Gln547=
XM_011509366.1:c.1641G>A	XP_011507668.1:p.Gln547=
XM_011509367.1:c.1641G>A	XP_011507669.1:p.Gln547=
XM_011509368.1:c.1059G>A	XP_011507670.1:p.Gln353=
XM_011509369.1:c.84G>A	XP_011507671.1:p.Gln28=
XM_011509365.2:c.1641G>A	XP_011507667.1:p.Gln547=
XM_011509369.2:c.84G>A	XP_011507671.1:p.Gln28=
XM_017000851.1:c.798G>A	XP_016856340.1:p.Gln266=
XM_017000852.1:c.1641G>A	XP_016856341.1:p.Gln547=
NM_201253.3:c.1641G>A MANE Select	NP_957705.1:p.Gln547=
NM_001193640.2:c.1305G>A	NP_001180569.1:p.Gln435=
NM_001257965.2:c.1434G>A	NP_001244894.1:p.Gln478=
NR_047563.2:n.1802G>A
NR_047564.2:n.1802G>A
NM_001257966.2:c.1641G>A	NP_001244895.1:p.Gln547=