Canonical Allele Identifier: CA344035511

Gene: CRB1

Linked Data

• dbSNP Id: rs760100325
• gnomAD v4: 1-197477719-C-T
• MyVariant Identifiers: chr1:g.197446849C>T (hg19) ; chr1:g.197477719C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197477719C>T , CM000663.2:g.197477719C>T	GRCh38
NC_000001.10:g.197446849C>T , CM000663.1:g.197446849C>T	GRCh37
NC_000001.9:g.195713472C>T	NCBI36
NG_008483.1:g.214442C>T
NG_008483.2:g.281258C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367400.8:c.4061C>T MANE Select	ENSP00000356370.3:p.Ala1354Val
ENST00000367399.6:c.3725C>T	ENSP00000356369.2:p.Ala1242Val
ENST00000367400.7:c.4061C>T	ENSP00000356370.3:p.Ala1354Val
ENST00000448952.1:c.295C>T	ENSP00000395407.1:n.295C>T
ENST00000484075.5:c.*172C>T	ENSP00000433932.1:n.*172C>T
ENST00000535699.5:c.3989C>T	ENSP00000438786.1:p.Ala1330Val
ENST00000538660.5:c.2453C>T	ENSP00000438091.1:p.Ala818Val
NM_001193640.1:c.3725C>T	NP_001180569.1:p.Ala1242Val
NM_001257965.1:c.3989C>T	NP_001244894.1:p.Ala1330Val
NM_001257966.1:c.2453C>T	NP_001244895.1:p.Ala818Val
NM_201253.2:c.4061C>T	NP_957705.1:p.Ala1354Val
NR_047563.1:n.4062C>T
NR_047564.1:n.4512C>T
XM_011509366.1:c.*166C>T	XP_011507668.1:n.*166C>T
XM_011509367.1:c.*40C>T	XP_011507669.1:n.*40C>T
XM_011509368.1:c.3479C>T	XP_011507670.1:p.Ala1160Val
XM_011509369.1:c.2504C>T	XP_011507671.1:p.Ala835Val
XM_011509369.2:c.2504C>T	XP_011507671.1:p.Ala835Val
XM_017000851.1:c.3218C>T	XP_016856340.1:p.Ala1073Val
XM_017000852.1:c.4196C>T	XP_016856341.1:p.Ala1399Val
NM_201253.3:c.4061C>T MANE Select	NP_957705.1:p.Ala1354Val
NM_001193640.2:c.3725C>T	NP_001180569.1:p.Ala1242Val
NM_001257965.2:c.3989C>T	NP_001244894.1:p.Ala1330Val
NR_047563.2:n.4014C>T
NR_047564.2:n.4464C>T
NM_001257966.2:c.2453C>T	NP_001244895.1:p.Ala818Val