Canonical Allele Identifier: CA344037015

Gene: CRB1

Linked Data

• MyVariant Identifiers: chr1:g.197396801A>C (hg19) ; chr1:g.197427671A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197427671A>C , CM000663.2:g.197427671A>C	GRCh38
NC_000001.10:g.197396801A>C , CM000663.1:g.197396801A>C	GRCh37
NC_000001.9:g.195663424A>C	NCBI36
NG_008483.1:g.164394A>C
NG_008483.2:g.231210A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367400.8:c.2346A>C MANE Select	ENSP00000356370.3:p.Leu782Phe
ENST00000638467.1:c.2346A>C	ENSP00000491102.1:p.Leu782Phe
ENST00000681519.1:c.1227A>C	ENSP00000505267.1:p.Leu409Phe
ENST00000367397.1:c.489A>C	ENSP00000356367.1:p.Leu163Phe
ENST00000367399.6:c.2010A>C	ENSP00000356369.2:p.Leu670Phe
ENST00000367400.7:c.2346A>C	ENSP00000356370.3:p.Leu782Phe
ENST00000480086.2:n.247A>C
ENST00000484075.5:c.2346A>C	ENSP00000433932.1:p.Leu782Phe
ENST00000535699.5:c.2139A>C	ENSP00000438786.1:p.Leu713Phe
ENST00000538660.5:c.2128+5715A>C	ENSP00000438091.1:n.2128+5715A>C
NM_001193640.1:c.2010A>C	NP_001180569.1:p.Leu670Phe
NM_001257965.1:c.2139A>C	NP_001244894.1:p.Leu713Phe
NM_001257966.1:c.2128+5715A>C	NP_001244895.1:n.2128+5715A>C
NM_201253.2:c.2346A>C	NP_957705.1:p.Leu782Phe
NR_047563.1:n.2347A>C
NR_047564.1:n.2555A>C
XM_011509365.1:c.2346A>C	XP_011507667.1:p.Leu782Phe
XM_011509366.1:c.2346A>C	XP_011507668.1:p.Leu782Phe
XM_011509367.1:c.2346A>C	XP_011507669.1:p.Leu782Phe
XM_011509368.1:c.1764A>C	XP_011507670.1:p.Leu588Phe
XM_011509369.1:c.789A>C	XP_011507671.1:p.Leu263Phe
XM_011509365.2:c.2346A>C	XP_011507667.1:p.Leu782Phe
XM_011509369.2:c.789A>C	XP_011507671.1:p.Leu263Phe
XM_017000851.1:c.1503A>C	XP_016856340.1:p.Leu501Phe
XM_017000852.1:c.2346A>C	XP_016856341.1:p.Leu782Phe
NM_201253.3:c.2346A>C MANE Select	NP_957705.1:p.Leu782Phe
NM_001193640.2:c.2010A>C	NP_001180569.1:p.Leu670Phe
NM_001257965.2:c.2139A>C	NP_001244894.1:p.Leu713Phe
NR_047563.2:n.2299A>C
NR_047564.2:n.2507A>C
NM_001257966.2:c.2128+5715A>C	NP_001244895.1:n.2128+5715A>C