Canonical Allele Identifier: CA344040830

Gene: CRB1

Linked Data

• dbSNP Id: rs1457458079
• gnomAD v2: 1-197398657-G-T
• gnomAD v4: 1-197429527-G-T
• MyVariant Identifiers: chr1:g.197398657G>T (hg19) ; chr1:g.197429527G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197429527G>T , CM000663.2:g.197429527G>T	GRCh38
NC_000001.10:g.197398657G>T , CM000663.1:g.197398657G>T	GRCh37
NC_000001.9:g.195665280G>T	NCBI36
NG_008483.1:g.166250G>T
NG_008483.2:g.233066G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367400.8:c.2755G>T MANE Select	ENSP00000356370.3:p.Gly919Trp
ENST00000638467.1:c.2755G>T	ENSP00000491102.1:p.Gly919Trp
ENST00000681519.1:c.1636G>T	ENSP00000505267.1:p.Gly546Trp
ENST00000367397.1:c.898G>T	ENSP00000356367.1:p.Gly300Trp
ENST00000367399.6:c.2419G>T	ENSP00000356369.2:p.Gly807Trp
ENST00000367400.7:c.2755G>T	ENSP00000356370.3:p.Gly919Trp
ENST00000484075.5:c.2755G>T	ENSP00000433932.1:p.Gly919Trp
ENST00000535699.5:c.2683G>T	ENSP00000438786.1:p.Gly895Trp
ENST00000538660.5:c.2129-6073G>T	ENSP00000438091.1:n.2129-6073G>T
NM_001193640.1:c.2419G>T	NP_001180569.1:p.Gly807Trp
NM_001257965.1:c.2683G>T	NP_001244894.1:p.Gly895Trp
NM_001257966.1:c.2129-6073G>T	NP_001244895.1:n.2129-6073G>T
NM_201253.2:c.2755G>T	NP_957705.1:p.Gly919Trp
NR_047563.1:n.2756G>T
NR_047564.1:n.2964G>T
XM_011509365.1:c.2755G>T	XP_011507667.1:p.Gly919Trp
XM_011509366.1:c.2755G>T	XP_011507668.1:p.Gly919Trp
XM_011509367.1:c.2755G>T	XP_011507669.1:p.Gly919Trp
XM_011509368.1:c.2173G>T	XP_011507670.1:p.Gly725Trp
XM_011509369.1:c.1198G>T	XP_011507671.1:p.Gly400Trp
XM_011509365.2:c.2755G>T	XP_011507667.1:p.Gly919Trp
XM_011509369.2:c.1198G>T	XP_011507671.1:p.Gly400Trp
XM_017000851.1:c.1912G>T	XP_016856340.1:p.Gly638Trp
XM_017000852.1:c.2890G>T	XP_016856341.1:p.Gly964Trp
NM_201253.3:c.2755G>T MANE Select	NP_957705.1:p.Gly919Trp
NM_001193640.2:c.2419G>T	NP_001180569.1:p.Gly807Trp
NM_001257965.2:c.2683G>T	NP_001244894.1:p.Gly895Trp
NR_047563.2:n.2708G>T
NR_047564.2:n.2916G>T
NM_001257966.2:c.2129-6073G>T	NP_001244895.1:n.2129-6073G>T