Canonical Allele Identifier: CA1312108

Gene: CRB1

Linked Data

• dbSNP Id: rs140608881
• ExAC: 1:197396814 G / C
• gnomAD v2: 1-197396814-G-C
• gnomAD v4: 1-197427684-G-C
• MyVariant Identifiers: chr1:g.197396814G>C (hg19) ; chr1:g.197427684G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197427684G>C , CM000663.2:g.197427684G>C	GRCh38
NC_000001.10:g.197396814G>C , CM000663.1:g.197396814G>C	GRCh37
NC_000001.9:g.195663437G>C	NCBI36
NG_008483.1:g.164407G>C
NG_008483.2:g.231223G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367400.8:c.2359G>C MANE Select	ENSP00000356370.3:p.Val787Leu
ENST00000638467.1:c.2359G>C	ENSP00000491102.1:p.Val787Leu
ENST00000681519.1:c.1240G>C	ENSP00000505267.1:p.Val414Leu
ENST00000367397.1:c.502G>C	ENSP00000356367.1:p.Val168Leu
ENST00000367399.6:c.2023G>C	ENSP00000356369.2:p.Val675Leu
ENST00000367400.7:c.2359G>C	ENSP00000356370.3:p.Val787Leu
ENST00000480086.2:n.260G>C
ENST00000484075.5:c.2359G>C	ENSP00000433932.1:p.Val787Leu
ENST00000535699.5:c.2152G>C	ENSP00000438786.1:p.Val718Leu
ENST00000538660.5:c.2128+5728G>C	ENSP00000438091.1:n.2128+5728G>C
NM_001193640.1:c.2023G>C	NP_001180569.1:p.Val675Leu
NM_001257965.1:c.2152G>C	NP_001244894.1:p.Val718Leu
NM_001257966.1:c.2128+5728G>C	NP_001244895.1:n.2128+5728G>C
NM_201253.2:c.2359G>C	NP_957705.1:p.Val787Leu
NR_047563.1:n.2360G>C
NR_047564.1:n.2568G>C
XM_011509365.1:c.2359G>C	XP_011507667.1:p.Val787Leu
XM_011509366.1:c.2359G>C	XP_011507668.1:p.Val787Leu
XM_011509367.1:c.2359G>C	XP_011507669.1:p.Val787Leu
XM_011509368.1:c.1777G>C	XP_011507670.1:p.Val593Leu
XM_011509369.1:c.802G>C	XP_011507671.1:p.Val268Leu
XM_011509365.2:c.2359G>C	XP_011507667.1:p.Val787Leu
XM_011509369.2:c.802G>C	XP_011507671.1:p.Val268Leu
XM_017000851.1:c.1516G>C	XP_016856340.1:p.Val506Leu
XM_017000852.1:c.2359G>C	XP_016856341.1:p.Val787Leu
NM_201253.3:c.2359G>C MANE Select	NP_957705.1:p.Val787Leu
NM_001193640.2:c.2023G>C	NP_001180569.1:p.Val675Leu
NM_001257965.2:c.2152G>C	NP_001244894.1:p.Val718Leu
NR_047563.2:n.2312G>C
NR_047564.2:n.2520G>C
NM_001257966.2:c.2128+5728G>C	NP_001244895.1:n.2128+5728G>C