Canonical Allele Identifier: CA344032807

Gene: CRB1

Linked Data

• gnomAD v4: 1-197421704-G-A
• MyVariant Identifiers: chr1:g.197390834G>A (hg19) ; chr1:g.197421704G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197421704G>A , CM000663.2:g.197421704G>A	GRCh38
NC_000001.10:g.197390834G>A , CM000663.1:g.197390834G>A	GRCh37
NC_000001.9:g.195657457G>A	NCBI36
NG_008483.1:g.158427G>A
NG_008483.2:g.225243G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367400.8:c.1876G>A MANE Select	ENSP00000356370.3:p.Ala626Thr
ENST00000638467.1:c.1876G>A	ENSP00000491102.1:p.Ala626Thr
ENST00000681519.1:c.757G>A	ENSP00000505267.1:p.Ala253Thr
ENST00000367397.1:c.19G>A	ENSP00000356367.1:p.Ala7Thr
ENST00000367399.6:c.1540G>A	ENSP00000356369.2:p.Ala514Thr
ENST00000367400.7:c.1876G>A	ENSP00000356370.3:p.Ala626Thr
ENST00000484075.5:c.1876G>A	ENSP00000433932.1:p.Ala626Thr
ENST00000535699.5:c.1669G>A	ENSP00000438786.1:p.Ala557Thr
ENST00000538660.5:c.1876G>A	ENSP00000438091.1:p.Ala626Thr
NM_001193640.1:c.1540G>A	NP_001180569.1:p.Ala514Thr
NM_001257965.1:c.1669G>A	NP_001244894.1:p.Ala557Thr
NM_001257966.1:c.1876G>A	NP_001244895.1:p.Ala626Thr
NM_201253.2:c.1876G>A	NP_957705.1:p.Ala626Thr
NR_047563.1:n.1923-46G>A
NR_047564.1:n.2085G>A
XM_011509365.1:c.1876G>A	XP_011507667.1:p.Ala626Thr
XM_011509366.1:c.1876G>A	XP_011507668.1:p.Ala626Thr
XM_011509367.1:c.1876G>A	XP_011507669.1:p.Ala626Thr
XM_011509368.1:c.1294G>A	XP_011507670.1:p.Ala432Thr
XM_011509369.1:c.319G>A	XP_011507671.1:p.Ala107Thr
XM_011509365.2:c.1876G>A	XP_011507667.1:p.Ala626Thr
XM_011509369.2:c.319G>A	XP_011507671.1:p.Ala107Thr
XM_017000851.1:c.1033G>A	XP_016856340.1:p.Ala345Thr
XM_017000852.1:c.1876G>A	XP_016856341.1:p.Ala626Thr
NM_201253.3:c.1876G>A MANE Select	NP_957705.1:p.Ala626Thr
NM_001193640.2:c.1540G>A	NP_001180569.1:p.Ala514Thr
NM_001257965.2:c.1669G>A	NP_001244894.1:p.Ala557Thr
NR_047563.2:n.1875-46G>A
NR_047564.2:n.2037G>A
NM_001257966.2:c.1876G>A	NP_001244895.1:p.Ala626Thr