Canonical Allele Identifier: CA1312001

Gene: CRB1

Linked Data

• dbSNP Id: rs752406879
• ExAC: 1:197390883 G / C
• gnomAD v2: 1-197390883-G-C
• gnomAD v4: 1-197421753-G-C
• MyVariant Identifiers: chr1:g.197390883G>C (hg19) ; chr1:g.197421753G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197421753G>C , CM000663.2:g.197421753G>C	GRCh38
NC_000001.10:g.197390883G>C , CM000663.1:g.197390883G>C	GRCh37
NC_000001.9:g.195657506G>C	NCBI36
NG_008483.1:g.158476G>C
NG_008483.2:g.225292G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367400.8:c.1925G>C MANE Select	ENSP00000356370.3:p.Cys642Ser
ENST00000638467.1:c.1925G>C	ENSP00000491102.1:p.Cys642Ser
ENST00000681519.1:c.806G>C	ENSP00000505267.1:p.Cys269Ser
ENST00000367397.1:c.68G>C	ENSP00000356367.1:p.Cys23Ser
ENST00000367399.6:c.1589G>C	ENSP00000356369.2:p.Cys530Ser
ENST00000367400.7:c.1925G>C	ENSP00000356370.3:p.Cys642Ser
ENST00000484075.5:c.1925G>C	ENSP00000433932.1:p.Cys642Ser
ENST00000535699.5:c.1718G>C	ENSP00000438786.1:p.Cys573Ser
ENST00000538660.5:c.1925G>C	ENSP00000438091.1:p.Cys642Ser
NM_001193640.1:c.1589G>C	NP_001180569.1:p.Cys530Ser
NM_001257965.1:c.1718G>C	NP_001244894.1:p.Cys573Ser
NM_001257966.1:c.1925G>C	NP_001244895.1:p.Cys642Ser
NM_201253.2:c.1925G>C	NP_957705.1:p.Cys642Ser
NR_047563.1:n.1926G>C
NR_047564.1:n.2134G>C
XM_011509365.1:c.1925G>C	XP_011507667.1:p.Cys642Ser
XM_011509366.1:c.1925G>C	XP_011507668.1:p.Cys642Ser
XM_011509367.1:c.1925G>C	XP_011507669.1:p.Cys642Ser
XM_011509368.1:c.1343G>C	XP_011507670.1:p.Cys448Ser
XM_011509369.1:c.368G>C	XP_011507671.1:p.Cys123Ser
XM_011509365.2:c.1925G>C	XP_011507667.1:p.Cys642Ser
XM_011509369.2:c.368G>C	XP_011507671.1:p.Cys123Ser
XM_017000851.1:c.1082G>C	XP_016856340.1:p.Cys361Ser
XM_017000852.1:c.1925G>C	XP_016856341.1:p.Cys642Ser
NM_201253.3:c.1925G>C MANE Select	NP_957705.1:p.Cys642Ser
NM_001193640.2:c.1589G>C	NP_001180569.1:p.Cys530Ser
NM_001257965.2:c.1718G>C	NP_001244894.1:p.Cys573Ser
NR_047563.2:n.1878G>C
NR_047564.2:n.2086G>C
NM_001257966.2:c.1925G>C	NP_001244895.1:p.Cys642Ser