Canonical Allele Identifier: CA344044762

Gene: CRB1

Linked Data

• MyVariant Identifiers: chr1:g.197404025A>C (hg19) ; chr1:g.197434895A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197434895A>C , CM000663.2:g.197434895A>C	GRCh38
NC_000001.10:g.197404025A>C , CM000663.1:g.197404025A>C	GRCh37
NC_000001.9:g.195670648A>C	NCBI36
NG_008483.1:g.171618A>C
NG_008483.2:g.238434A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367400.8:c.3032A>C MANE Select	ENSP00000356370.3:p.Gln1011Pro
ENST00000638467.1:c.3032A>C	ENSP00000491102.1:p.Gln1011Pro
ENST00000681519.1:c.1913A>C	ENSP00000505267.1:p.Gln638Pro
ENST00000367397.1:c.1175A>C	ENSP00000356367.1:p.Gln392Pro
ENST00000367399.6:c.2696A>C	ENSP00000356369.2:p.Gln899Pro
ENST00000367400.7:c.3032A>C	ENSP00000356370.3:p.Gln1011Pro
ENST00000484075.5:c.3032A>C	ENSP00000433932.1:p.Gln1011Pro
ENST00000535699.5:c.2960A>C	ENSP00000438786.1:p.Gln987Pro
ENST00000538660.5:c.2129-705A>C	ENSP00000438091.1:n.2129-705A>C
NM_001193640.1:c.2696A>C	NP_001180569.1:p.Gln899Pro
NM_001257965.1:c.2960A>C	NP_001244894.1:p.Gln987Pro
NM_001257966.1:c.2129-705A>C	NP_001244895.1:n.2129-705A>C
NM_201253.2:c.3032A>C	NP_957705.1:p.Gln1011Pro
NR_047563.1:n.3033A>C
NR_047564.1:n.3241A>C
XM_011509365.1:c.3032A>C	XP_011507667.1:p.Gln1011Pro
XM_011509366.1:c.3032A>C	XP_011507668.1:p.Gln1011Pro
XM_011509367.1:c.3032A>C	XP_011507669.1:p.Gln1011Pro
XM_011509368.1:c.2450A>C	XP_011507670.1:p.Gln817Pro
XM_011509369.1:c.1475A>C	XP_011507671.1:p.Gln492Pro
XM_011509365.2:c.3032A>C	XP_011507667.1:p.Gln1011Pro
XM_011509369.2:c.1475A>C	XP_011507671.1:p.Gln492Pro
XM_017000851.1:c.2189A>C	XP_016856340.1:p.Gln730Pro
XM_017000852.1:c.3167A>C	XP_016856341.1:p.Gln1056Pro
NM_201253.3:c.3032A>C MANE Select	NP_957705.1:p.Gln1011Pro
NM_001193640.2:c.2696A>C	NP_001180569.1:p.Gln899Pro
NM_001257965.2:c.2960A>C	NP_001244894.1:p.Gln987Pro
NR_047563.2:n.2985A>C
NR_047564.2:n.3193A>C
NM_001257966.2:c.2129-705A>C	NP_001244895.1:n.2129-705A>C