Canonical Allele Identifier: CA344031783

Gene: CRB1

Linked Data

• MyVariant Identifiers: chr1:g.197390589T>G (hg19) ; chr1:g.197421459T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197421459T>G , CM000663.2:g.197421459T>G	GRCh38
NC_000001.10:g.197390589T>G , CM000663.1:g.197390589T>G	GRCh37
NC_000001.9:g.195657212T>G	NCBI36
NG_008483.1:g.158182T>G
NG_008483.2:g.224998T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367400.8:c.1631T>G MANE Select	ENSP00000356370.3:p.Leu544Ter
ENST00000638467.1:c.1631T>G	ENSP00000491102.1:p.Leu544Ter
ENST00000681519.1:c.512T>G	ENSP00000505267.1:p.Leu171Ter
ENST00000367397.1:c.-227T>G	ENSP00000356367.1:n.-227T>G
ENST00000367399.6:c.1295T>G	ENSP00000356369.2:p.Leu432Ter
ENST00000367400.7:c.1631T>G	ENSP00000356370.3:p.Leu544Ter
ENST00000484075.5:c.1631T>G	ENSP00000433932.1:p.Leu544Ter
ENST00000535699.5:c.1424T>G	ENSP00000438786.1:p.Leu475Ter
ENST00000538660.5:c.1631T>G	ENSP00000438091.1:p.Leu544Ter
NM_001193640.1:c.1295T>G	NP_001180569.1:p.Leu432Ter
NM_001257965.1:c.1424T>G	NP_001244894.1:p.Leu475Ter
NM_001257966.1:c.1631T>G	NP_001244895.1:p.Leu544Ter
NM_201253.2:c.1631T>G	NP_957705.1:p.Leu544Ter
NR_047563.1:n.1840T>G
NR_047564.1:n.1840T>G
XM_011509365.1:c.1631T>G	XP_011507667.1:p.Leu544Ter
XM_011509366.1:c.1631T>G	XP_011507668.1:p.Leu544Ter
XM_011509367.1:c.1631T>G	XP_011507669.1:p.Leu544Ter
XM_011509368.1:c.1049T>G	XP_011507670.1:p.Leu350Ter
XM_011509369.1:c.74T>G	XP_011507671.1:p.Leu25Ter
XM_011509365.2:c.1631T>G	XP_011507667.1:p.Leu544Ter
XM_011509369.2:c.74T>G	XP_011507671.1:p.Leu25Ter
XM_017000851.1:c.788T>G	XP_016856340.1:p.Leu263Ter
XM_017000852.1:c.1631T>G	XP_016856341.1:p.Leu544Ter
NM_201253.3:c.1631T>G MANE Select	NP_957705.1:p.Leu544Ter
NM_001193640.2:c.1295T>G	NP_001180569.1:p.Leu432Ter
NM_001257965.2:c.1424T>G	NP_001244894.1:p.Leu475Ter
NR_047563.2:n.1792T>G
NR_047564.2:n.1792T>G
NM_001257966.2:c.1631T>G	NP_001244895.1:p.Leu544Ter