Canonical Allele Identifier: CA422808440

Gene: CRB1

Linked Data

• COSMIC: COSM678319
• MyVariant Identifiers: chr1:g.197390692G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197421562G>T , CM000663.2:g.197421562G>T	GRCh38
NC_000001.10:g.197390692G>T , CM000663.1:g.197390692G>T	GRCh37
NC_000001.9:g.195657315G>T	NCBI36
NG_008483.1:g.158285G>T
NG_008483.2:g.225101G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367400.8:c.1734G>T MANE Select	ENSP00000356370.3:p.Val578=
ENST00000638467.1:c.1734G>T	ENSP00000491102.1:p.Val578=
ENST00000681519.1:c.615G>T	ENSP00000505267.1:p.Val205=
ENST00000367397.1:c.-124G>T	ENSP00000356367.1:n.-124G>T
ENST00000367399.6:c.1398G>T	ENSP00000356369.2:p.Val466=
ENST00000367400.7:c.1734G>T	ENSP00000356370.3:p.Val578=
ENST00000484075.5:c.1734G>T	ENSP00000433932.1:p.Val578=
ENST00000535699.5:c.1527G>T	ENSP00000438786.1:p.Val509=
ENST00000538660.5:c.1734G>T	ENSP00000438091.1:p.Val578=
NM_001193640.1:c.1398G>T	NP_001180569.1:p.Val466=
NM_001257965.1:c.1527G>T	NP_001244894.1:p.Val509=
NM_001257966.1:c.1734G>T	NP_001244895.1:p.Val578=
NM_201253.2:c.1734G>T	NP_957705.1:p.Val578=
NR_047563.1:n.1922+21G>T
NR_047564.1:n.1943G>T
XM_011509365.1:c.1734G>T	XP_011507667.1:p.Val578=
XM_011509366.1:c.1734G>T	XP_011507668.1:p.Val578=
XM_011509367.1:c.1734G>T	XP_011507669.1:p.Val578=
XM_011509368.1:c.1152G>T	XP_011507670.1:p.Val384=
XM_011509369.1:c.177G>T	XP_011507671.1:p.Val59=
XM_011509365.2:c.1734G>T	XP_011507667.1:p.Val578=
XM_011509369.2:c.177G>T	XP_011507671.1:p.Val59=
XM_017000851.1:c.891G>T	XP_016856340.1:p.Val297=
XM_017000852.1:c.1734G>T	XP_016856341.1:p.Val578=
NM_201253.3:c.1734G>T MANE Select	NP_957705.1:p.Val578=
NM_001193640.2:c.1398G>T	NP_001180569.1:p.Val466=
NM_001257965.2:c.1527G>T	NP_001244894.1:p.Val509=
NR_047563.2:n.1874+21G>T
NR_047564.2:n.1895G>T
NM_001257966.2:c.1734G>T	NP_001244895.1:p.Val578=