Canonical Allele Identifier: CA344038293

Gene: CRB1

Linked Data

• MyVariant Identifiers: chr1:g.197397018G>C (hg19) ; chr1:g.197427888G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197427888G>C , CM000663.2:g.197427888G>C	GRCh38
NC_000001.10:g.197397018G>C , CM000663.1:g.197397018G>C	GRCh37
NC_000001.9:g.195663641G>C	NCBI36
NG_008483.1:g.164611G>C
NG_008483.2:g.231427G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367400.8:c.2563G>C MANE Select	ENSP00000356370.3:p.Val855Leu
ENST00000638467.1:c.2563G>C	ENSP00000491102.1:p.Val855Leu
ENST00000681519.1:c.1444G>C	ENSP00000505267.1:p.Val482Leu
ENST00000367397.1:c.706G>C	ENSP00000356367.1:p.Val236Leu
ENST00000367399.6:c.2227G>C	ENSP00000356369.2:p.Val743Leu
ENST00000367400.7:c.2563G>C	ENSP00000356370.3:p.Val855Leu
ENST00000484075.5:c.2563G>C	ENSP00000433932.1:p.Val855Leu
ENST00000535699.5:c.2356G>C	ENSP00000438786.1:p.Val786Leu
ENST00000538660.5:c.2128+5932G>C	ENSP00000438091.1:n.2128+5932G>C
NM_001193640.1:c.2227G>C	NP_001180569.1:p.Val743Leu
NM_001257965.1:c.2356G>C	NP_001244894.1:p.Val786Leu
NM_001257966.1:c.2128+5932G>C	NP_001244895.1:n.2128+5932G>C
NM_201253.2:c.2563G>C	NP_957705.1:p.Val855Leu
NR_047563.1:n.2564G>C
NR_047564.1:n.2772G>C
XM_011509365.1:c.2563G>C	XP_011507667.1:p.Val855Leu
XM_011509366.1:c.2563G>C	XP_011507668.1:p.Val855Leu
XM_011509367.1:c.2563G>C	XP_011507669.1:p.Val855Leu
XM_011509368.1:c.1981G>C	XP_011507670.1:p.Val661Leu
XM_011509369.1:c.1006G>C	XP_011507671.1:p.Val336Leu
XM_011509365.2:c.2563G>C	XP_011507667.1:p.Val855Leu
XM_011509369.2:c.1006G>C	XP_011507671.1:p.Val336Leu
XM_017000851.1:c.1720G>C	XP_016856340.1:p.Val574Leu
XM_017000852.1:c.2563G>C	XP_016856341.1:p.Val855Leu
NM_201253.3:c.2563G>C MANE Select	NP_957705.1:p.Val855Leu
NM_001193640.2:c.2227G>C	NP_001180569.1:p.Val743Leu
NM_001257965.2:c.2356G>C	NP_001244894.1:p.Val786Leu
NR_047563.2:n.2516G>C
NR_047564.2:n.2724G>C
NM_001257966.2:c.2128+5932G>C	NP_001244895.1:n.2128+5932G>C