Canonical Allele Identifier: CA344031002

Gene: CRB1

Linked Data

• dbSNP Id: rs1664298414
• gnomAD v4: 1-197421287-T-G
• MyVariant Identifiers: chr1:g.197390417T>G (hg19) ; chr1:g.197421287T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197421287T>G , CM000663.2:g.197421287T>G	GRCh38
NC_000001.10:g.197390417T>G , CM000663.1:g.197390417T>G	GRCh37
NC_000001.9:g.195657040T>G	NCBI36
NG_008483.1:g.158010T>G
NG_008483.2:g.224826T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367400.8:c.1459T>G MANE Select	ENSP00000356370.3:p.Ser487Ala
ENST00000638467.1:c.1459T>G	ENSP00000491102.1:p.Ser487Ala
ENST00000681519.1:c.340T>G	ENSP00000505267.1:p.Ser114Ala
ENST00000367397.1:c.-399T>G	ENSP00000356367.1:n.-399T>G
ENST00000367399.6:c.1123T>G	ENSP00000356369.2:p.Ser375Ala
ENST00000367400.7:c.1459T>G	ENSP00000356370.3:p.Ser487Ala
ENST00000476483.1:n.419T>G
ENST00000484075.5:c.1459T>G	ENSP00000433932.1:p.Ser487Ala
ENST00000535699.5:c.1252T>G	ENSP00000438786.1:p.Ser418Ala
ENST00000538660.5:c.1459T>G	ENSP00000438091.1:p.Ser487Ala
NM_001193640.1:c.1123T>G	NP_001180569.1:p.Ser375Ala
NM_001257965.1:c.1252T>G	NP_001244894.1:p.Ser418Ala
NM_001257966.1:c.1459T>G	NP_001244895.1:p.Ser487Ala
NM_201253.2:c.1459T>G	NP_957705.1:p.Ser487Ala
NR_047563.1:n.1668T>G
NR_047564.1:n.1668T>G
XM_011509365.1:c.1459T>G	XP_011507667.1:p.Ser487Ala
XM_011509366.1:c.1459T>G	XP_011507668.1:p.Ser487Ala
XM_011509367.1:c.1459T>G	XP_011507669.1:p.Ser487Ala
XM_011509368.1:c.877T>G	XP_011507670.1:p.Ser293Ala
XM_011509369.1:c.-99T>G	XP_011507671.1:n.-99T>G
XM_011509365.2:c.1459T>G	XP_011507667.1:p.Ser487Ala
XM_011509369.2:c.-99T>G	XP_011507671.1:n.-99T>G
XM_017000851.1:c.616T>G	XP_016856340.1:p.Ser206Ala
XM_017000852.1:c.1459T>G	XP_016856341.1:p.Ser487Ala
NM_201253.3:c.1459T>G MANE Select	NP_957705.1:p.Ser487Ala
NM_001193640.2:c.1123T>G	NP_001180569.1:p.Ser375Ala
NM_001257965.2:c.1252T>G	NP_001244894.1:p.Ser418Ala
NR_047563.2:n.1620T>G
NR_047564.2:n.1620T>G
NM_001257966.2:c.1459T>G	NP_001244895.1:p.Ser487Ala