Canonical Allele Identifier: CA344036138

Gene: CRB1

Linked Data

• MyVariant Identifiers: chr1:g.197447008A>C (hg19) ; chr1:g.197477878A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197477878A>C , CM000663.2:g.197477878A>C	GRCh38
NC_000001.10:g.197447008A>C , CM000663.1:g.197447008A>C	GRCh37
NC_000001.9:g.195713631A>C	NCBI36
NG_008483.1:g.214601A>C
NG_008483.2:g.281417A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367400.8:c.4220A>C MANE Select	ENSP00000356370.3:p.Ter1407Ser
ENST00000367399.6:c.3884A>C	ENSP00000356369.2:p.Ter1295Ser
ENST00000367400.7:c.4220A>C	ENSP00000356370.3:p.Ter1407Ser
ENST00000448952.1:c.454A>C	ENSP00000395407.1:n.454A>C
ENST00000484075.5:c.*331A>C	ENSP00000433932.1:n.*331A>C
ENST00000535699.5:c.4148A>C	ENSP00000438786.1:p.Ter1383Ser
ENST00000538660.5:c.2612A>C	ENSP00000438091.1:p.Ter871Ser
NM_001193640.1:c.3884A>C	NP_001180569.1:p.Ter1295Ser
NM_001257965.1:c.4148A>C	NP_001244894.1:p.Ter1383Ser
NM_001257966.1:c.2612A>C	NP_001244895.1:p.Ter871Ser
NM_201253.2:c.4220A>C	NP_957705.1:p.Ter1407Ser
NR_047563.1:n.4221A>C
NR_047564.1:n.4671A>C
XM_011509366.1:c.*325A>C	XP_011507668.1:n.*325A>C
XM_011509367.1:c.*199A>C	XP_011507669.1:n.*199A>C
XM_011509368.1:c.3638A>C	XP_011507670.1:p.Ter1213Ser
XM_011509369.1:c.2663A>C	XP_011507671.1:p.Ter888Ser
XM_011509369.2:c.2663A>C	XP_011507671.1:p.Ter888Ser
XM_017000851.1:c.3377A>C	XP_016856340.1:p.Ter1126Ser
XM_017000852.1:c.4355A>C	XP_016856341.1:p.Ter1452Ser
NM_201253.3:c.4220A>C MANE Select	NP_957705.1:p.Ter1407Ser
NM_001193640.2:c.3884A>C	NP_001180569.1:p.Ter1295Ser
NM_001257965.2:c.4148A>C	NP_001244894.1:p.Ter1383Ser
NR_047563.2:n.4173A>C
NR_047564.2:n.4623A>C
NM_001257966.2:c.2612A>C	NP_001244895.1:p.Ter871Ser