Canonical Allele Identifier: CA344036954

Gene: CRB1

Linked Data - Variant Effect Evidence

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197427640T>A , CM000663.2:g.197427640T>A	GRCh38
NC_000001.10:g.197396770T>A , CM000663.1:g.197396770T>A	GRCh37
NC_000001.9:g.195663393T>A	NCBI36
NG_008483.1:g.164363T>A
NG_008483.2:g.231179T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367400.8:c.2315T>A MANE Select	ENSP00000356370.3:p.Leu772Gln
ENST00000638467.1:c.2315T>A	ENSP00000491102.1:p.Leu772Gln
ENST00000681519.1:c.1196T>A	ENSP00000505267.1:p.Leu399Gln
ENST00000367397.1:c.458T>A	ENSP00000356367.1:p.Leu153Gln
ENST00000367399.6:c.1979T>A	ENSP00000356369.2:p.Leu660Gln
ENST00000367400.7:c.2315T>A	ENSP00000356370.3:p.Leu772Gln
ENST00000480086.2:n.216T>A
ENST00000484075.5:c.2315T>A	ENSP00000433932.1:p.Leu772Gln
ENST00000535699.5:c.2108T>A	ENSP00000438786.1:p.Leu703Gln
ENST00000538660.5:c.2128+5684T>A	ENSP00000438091.1:n.2128+5684T>A
NM_001193640.1:c.1979T>A	NP_001180569.1:p.Leu660Gln
NM_001257965.1:c.2108T>A	NP_001244894.1:p.Leu703Gln
NM_001257966.1:c.2128+5684T>A	NP_001244895.1:n.2128+5684T>A
NM_201253.2:c.2315T>A	NP_957705.1:p.Leu772Gln
NR_047563.1:n.2316T>A
NR_047564.1:n.2524T>A
XM_011509365.1:c.2315T>A	XP_011507667.1:p.Leu772Gln
XM_011509366.1:c.2315T>A	XP_011507668.1:p.Leu772Gln
XM_011509367.1:c.2315T>A	XP_011507669.1:p.Leu772Gln
XM_011509368.1:c.1733T>A	XP_011507670.1:p.Leu578Gln
XM_011509369.1:c.758T>A	XP_011507671.1:p.Leu253Gln
XM_011509365.2:c.2315T>A	XP_011507667.1:p.Leu772Gln
XM_011509369.2:c.758T>A	XP_011507671.1:p.Leu253Gln
XM_017000851.1:c.1472T>A	XP_016856340.1:p.Leu491Gln
XM_017000852.1:c.2315T>A	XP_016856341.1:p.Leu772Gln
NM_201253.3:c.2315T>A MANE Select	NP_957705.1:p.Leu772Gln
NM_001193640.2:c.1979T>A	NP_001180569.1:p.Leu660Gln
NM_001257965.2:c.2108T>A	NP_001244894.1:p.Leu703Gln
NR_047563.2:n.2268T>A
NR_047564.2:n.2476T>A
NM_001257966.2:c.2128+5684T>A	NP_001244895.1:n.2128+5684T>A