Canonical Allele Identifier: CA344037016

Gene: CRB1

Linked Data

• gnomAD v4: 1-197427671-A-T
• MyVariant Identifiers: chr1:g.197396801A>T (hg19) ; chr1:g.197427671A>T (hg38)

Genomic Alleles

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

Transcript Alleles

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