Canonical Allele Identifier: CA344032597

Gene: CRB1

Linked Data

• MyVariant Identifiers: chr1:g.197390736C>A (hg19) ; chr1:g.197421606C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197421606C>A , CM000663.2:g.197421606C>A	GRCh38
NC_000001.10:g.197390736C>A , CM000663.1:g.197390736C>A	GRCh37
NC_000001.9:g.195657359C>A	NCBI36
NG_008483.1:g.158329C>A
NG_008483.2:g.225145C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367400.8:c.1778C>A MANE Select	ENSP00000356370.3:p.Ala593Glu
ENST00000638467.1:c.1778C>A	ENSP00000491102.1:p.Ala593Glu
ENST00000681519.1:c.659C>A	ENSP00000505267.1:p.Ala220Glu
ENST00000367397.1:c.-80C>A	ENSP00000356367.1:n.-80C>A
ENST00000367399.6:c.1442C>A	ENSP00000356369.2:p.Ala481Glu
ENST00000367400.7:c.1778C>A	ENSP00000356370.3:p.Ala593Glu
ENST00000484075.5:c.1778C>A	ENSP00000433932.1:p.Ala593Glu
ENST00000535699.5:c.1571C>A	ENSP00000438786.1:p.Ala524Glu
ENST00000538660.5:c.1778C>A	ENSP00000438091.1:p.Ala593Glu
NM_001193640.1:c.1442C>A	NP_001180569.1:p.Ala481Glu
NM_001257965.1:c.1571C>A	NP_001244894.1:p.Ala524Glu
NM_001257966.1:c.1778C>A	NP_001244895.1:p.Ala593Glu
NM_201253.2:c.1778C>A	NP_957705.1:p.Ala593Glu
NR_047563.1:n.1922+65C>A
NR_047564.1:n.1987C>A
XM_011509365.1:c.1778C>A	XP_011507667.1:p.Ala593Glu
XM_011509366.1:c.1778C>A	XP_011507668.1:p.Ala593Glu
XM_011509367.1:c.1778C>A	XP_011507669.1:p.Ala593Glu
XM_011509368.1:c.1196C>A	XP_011507670.1:p.Ala399Glu
XM_011509369.1:c.221C>A	XP_011507671.1:p.Ala74Glu
XM_011509365.2:c.1778C>A	XP_011507667.1:p.Ala593Glu
XM_011509369.2:c.221C>A	XP_011507671.1:p.Ala74Glu
XM_017000851.1:c.935C>A	XP_016856340.1:p.Ala312Glu
XM_017000852.1:c.1778C>A	XP_016856341.1:p.Ala593Glu
NM_201253.3:c.1778C>A MANE Select	NP_957705.1:p.Ala593Glu
NM_001193640.2:c.1442C>A	NP_001180569.1:p.Ala481Glu
NM_001257965.2:c.1571C>A	NP_001244894.1:p.Ala524Glu
NR_047563.2:n.1874+65C>A
NR_047564.2:n.1939C>A
NM_001257966.2:c.1778C>A	NP_001244895.1:p.Ala593Glu