Canonical Allele Identifier: CA344035614

Gene: CRB1

Linked Data

• dbSNP Id: rs745996384
• MyVariant Identifiers: chr1:g.197446893A>C (hg19) ; chr1:g.197477763A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197477763A>C , CM000663.2:g.197477763A>C	GRCh38
NC_000001.10:g.197446893A>C , CM000663.1:g.197446893A>C	GRCh37
NC_000001.9:g.195713516A>C	NCBI36
NG_008483.1:g.214486A>C
NG_008483.2:g.281302A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367400.8:c.4105A>C MANE Select	ENSP00000356370.3:p.Thr1369Pro
ENST00000367399.6:c.3769A>C	ENSP00000356369.2:p.Thr1257Pro
ENST00000367400.7:c.4105A>C	ENSP00000356370.3:p.Thr1369Pro
ENST00000448952.1:c.339A>C	ENSP00000395407.1:n.339A>C
ENST00000484075.5:c.*216A>C	ENSP00000433932.1:n.*216A>C
ENST00000535699.5:c.4033A>C	ENSP00000438786.1:p.Thr1345Pro
ENST00000538660.5:c.2497A>C	ENSP00000438091.1:p.Thr833Pro
NM_001193640.1:c.3769A>C	NP_001180569.1:p.Thr1257Pro
NM_001257965.1:c.4033A>C	NP_001244894.1:p.Thr1345Pro
NM_001257966.1:c.2497A>C	NP_001244895.1:p.Thr833Pro
NM_201253.2:c.4105A>C	NP_957705.1:p.Thr1369Pro
NR_047563.1:n.4106A>C
NR_047564.1:n.4556A>C
XM_011509366.1:c.*210A>C	XP_011507668.1:n.*210A>C
XM_011509367.1:c.*84A>C	XP_011507669.1:n.*84A>C
XM_011509368.1:c.3523A>C	XP_011507670.1:p.Thr1175Pro
XM_011509369.1:c.2548A>C	XP_011507671.1:p.Thr850Pro
XM_011509369.2:c.2548A>C	XP_011507671.1:p.Thr850Pro
XM_017000851.1:c.3262A>C	XP_016856340.1:p.Thr1088Pro
XM_017000852.1:c.4240A>C	XP_016856341.1:p.Thr1414Pro
NM_201253.3:c.4105A>C MANE Select	NP_957705.1:p.Thr1369Pro
NM_001193640.2:c.3769A>C	NP_001180569.1:p.Thr1257Pro
NM_001257965.2:c.4033A>C	NP_001244894.1:p.Thr1345Pro
NR_047563.2:n.4058A>C
NR_047564.2:n.4508A>C
NM_001257966.2:c.2497A>C	NP_001244895.1:p.Thr833Pro