Canonical Allele Identifier: CA422808947

Gene: CRB1

Linked Data

• COSMIC: COSM3481085
• MyVariant Identifiers: chr1:g.197396684C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197427554C>T , CM000663.2:g.197427554C>T	GRCh38
NC_000001.10:g.197396684C>T , CM000663.1:g.197396684C>T	GRCh37
NC_000001.9:g.195663307C>T	NCBI36
NG_008483.1:g.164277C>T
NG_008483.2:g.231093C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000367400.8:c.2229C>T MANE Select	ENSP00000356370.3:p.Val743=
ENST00000638467.1:c.2229C>T	ENSP00000491102.1:p.Val743=
ENST00000681519.1:c.1110C>T	ENSP00000505267.1:p.Val370=
ENST00000367397.1:c.372C>T	ENSP00000356367.1:p.Val124=
ENST00000367399.6:c.1893C>T	ENSP00000356369.2:p.Val631=
ENST00000367400.7:c.2229C>T	ENSP00000356370.3:p.Val743=
ENST00000480086.2:n.130C>T
ENST00000484075.5:c.2229C>T	ENSP00000433932.1:p.Val743=
ENST00000535699.5:c.2022C>T	ENSP00000438786.1:p.Val674=
ENST00000538660.5:c.2128+5598C>T	ENSP00000438091.1:n.2128+5598C>T
NM_001193640.1:c.1893C>T	NP_001180569.1:p.Val631=
NM_001257965.1:c.2022C>T	NP_001244894.1:p.Val674=
NM_001257966.1:c.2128+5598C>T	NP_001244895.1:n.2128+5598C>T
NM_201253.2:c.2229C>T	NP_957705.1:p.Val743=
NR_047563.1:n.2230C>T
NR_047564.1:n.2438C>T
XM_011509365.1:c.2229C>T	XP_011507667.1:p.Val743=
XM_011509366.1:c.2229C>T	XP_011507668.1:p.Val743=
XM_011509367.1:c.2229C>T	XP_011507669.1:p.Val743=
XM_011509368.1:c.1647C>T	XP_011507670.1:p.Val549=
XM_011509369.1:c.672C>T	XP_011507671.1:p.Val224=
XM_011509365.2:c.2229C>T	XP_011507667.1:p.Val743=
XM_011509369.2:c.672C>T	XP_011507671.1:p.Val224=
XM_017000851.1:c.1386C>T	XP_016856340.1:p.Val462=
XM_017000852.1:c.2229C>T	XP_016856341.1:p.Val743=
NM_201253.3:c.2229C>T MANE Select	NP_957705.1:p.Val743=
NM_001193640.2:c.1893C>T	NP_001180569.1:p.Val631=
NM_001257965.2:c.2022C>T	NP_001244894.1:p.Val674=
NR_047563.2:n.2182C>T
NR_047564.2:n.2390C>T
NM_001257966.2:c.2128+5598C>T	NP_001244895.1:n.2128+5598C>T