Canonical Allele Identifier: CA344037017

Gene: CRB1

Linked Data

• MyVariant Identifiers: chr1:g.197396802G>C (hg19) ; chr1:g.197427672G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197427672G>C , CM000663.2:g.197427672G>C	GRCh38
NC_000001.10:g.197396802G>C , CM000663.1:g.197396802G>C	GRCh37
NC_000001.9:g.195663425G>C	NCBI36
NG_008483.1:g.164395G>C
NG_008483.2:g.231211G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367400.8:c.2347G>C MANE Select	ENSP00000356370.3:p.Val783Leu
ENST00000638467.1:c.2347G>C	ENSP00000491102.1:p.Val783Leu
ENST00000681519.1:c.1228G>C	ENSP00000505267.1:p.Val410Leu
ENST00000367397.1:c.490G>C	ENSP00000356367.1:p.Val164Leu
ENST00000367399.6:c.2011G>C	ENSP00000356369.2:p.Val671Leu
ENST00000367400.7:c.2347G>C	ENSP00000356370.3:p.Val783Leu
ENST00000480086.2:n.248G>C
ENST00000484075.5:c.2347G>C	ENSP00000433932.1:p.Val783Leu
ENST00000535699.5:c.2140G>C	ENSP00000438786.1:p.Val714Leu
ENST00000538660.5:c.2128+5716G>C	ENSP00000438091.1:n.2128+5716G>C
NM_001193640.1:c.2011G>C	NP_001180569.1:p.Val671Leu
NM_001257965.1:c.2140G>C	NP_001244894.1:p.Val714Leu
NM_001257966.1:c.2128+5716G>C	NP_001244895.1:n.2128+5716G>C
NM_201253.2:c.2347G>C	NP_957705.1:p.Val783Leu
NR_047563.1:n.2348G>C
NR_047564.1:n.2556G>C
XM_011509365.1:c.2347G>C	XP_011507667.1:p.Val783Leu
XM_011509366.1:c.2347G>C	XP_011507668.1:p.Val783Leu
XM_011509367.1:c.2347G>C	XP_011507669.1:p.Val783Leu
XM_011509368.1:c.1765G>C	XP_011507670.1:p.Val589Leu
XM_011509369.1:c.790G>C	XP_011507671.1:p.Val264Leu
XM_011509365.2:c.2347G>C	XP_011507667.1:p.Val783Leu
XM_011509369.2:c.790G>C	XP_011507671.1:p.Val264Leu
XM_017000851.1:c.1504G>C	XP_016856340.1:p.Val502Leu
XM_017000852.1:c.2347G>C	XP_016856341.1:p.Val783Leu
NM_201253.3:c.2347G>C MANE Select	NP_957705.1:p.Val783Leu
NM_001193640.2:c.2011G>C	NP_001180569.1:p.Val671Leu
NM_001257965.2:c.2140G>C	NP_001244894.1:p.Val714Leu
NR_047563.2:n.2300G>C
NR_047564.2:n.2508G>C
NM_001257966.2:c.2128+5716G>C	NP_001244895.1:n.2128+5716G>C