Canonical Allele Identifier: CA1312006

Gene: CRB1

Linked Data

• dbSNP Id: rs781549185
• ExAC: 1:197390915 A / T
• gnomAD v2: 1-197390915-A-T
• gnomAD v4: 1-197421785-A-T
• MyVariant Identifiers: chr1:g.197390915A>T (hg19) ; chr1:g.197421785A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197421785A>T , CM000663.2:g.197421785A>T	GRCh38
NC_000001.10:g.197390915A>T , CM000663.1:g.197390915A>T	GRCh37
NC_000001.9:g.195657538A>T	NCBI36
NG_008483.1:g.158508A>T
NG_008483.2:g.225324A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367400.8:c.1957A>T MANE Select	ENSP00000356370.3:p.Ile653Phe
ENST00000638467.1:c.1957A>T	ENSP00000491102.1:p.Ile653Phe
ENST00000681519.1:c.838A>T	ENSP00000505267.1:p.Ile280Phe
ENST00000367397.1:c.100A>T	ENSP00000356367.1:p.Ile34Phe
ENST00000367399.6:c.1621A>T	ENSP00000356369.2:p.Ile541Phe
ENST00000367400.7:c.1957A>T	ENSP00000356370.3:p.Ile653Phe
ENST00000484075.5:c.1957A>T	ENSP00000433932.1:p.Ile653Phe
ENST00000535699.5:c.1750A>T	ENSP00000438786.1:p.Ile584Phe
ENST00000538660.5:c.1957A>T	ENSP00000438091.1:p.Ile653Phe
NM_001193640.1:c.1621A>T	NP_001180569.1:p.Ile541Phe
NM_001257965.1:c.1750A>T	NP_001244894.1:p.Ile584Phe
NM_001257966.1:c.1957A>T	NP_001244895.1:p.Ile653Phe
NM_201253.2:c.1957A>T	NP_957705.1:p.Ile653Phe
NR_047563.1:n.1958A>T
NR_047564.1:n.2166A>T
XM_011509365.1:c.1957A>T	XP_011507667.1:p.Ile653Phe
XM_011509366.1:c.1957A>T	XP_011507668.1:p.Ile653Phe
XM_011509367.1:c.1957A>T	XP_011507669.1:p.Ile653Phe
XM_011509368.1:c.1375A>T	XP_011507670.1:p.Ile459Phe
XM_011509369.1:c.400A>T	XP_011507671.1:p.Ile134Phe
XM_011509365.2:c.1957A>T	XP_011507667.1:p.Ile653Phe
XM_011509369.2:c.400A>T	XP_011507671.1:p.Ile134Phe
XM_017000851.1:c.1114A>T	XP_016856340.1:p.Ile372Phe
XM_017000852.1:c.1957A>T	XP_016856341.1:p.Ile653Phe
NM_201253.3:c.1957A>T MANE Select	NP_957705.1:p.Ile653Phe
NM_001193640.2:c.1621A>T	NP_001180569.1:p.Ile541Phe
NM_001257965.2:c.1750A>T	NP_001244894.1:p.Ile584Phe
NR_047563.2:n.1910A>T
NR_047564.2:n.2118A>T
NM_001257966.2:c.1957A>T	NP_001244895.1:p.Ile653Phe