Canonical Allele Identifier: CA35893335

Gene: CRB1

Linked Data

• dbSNP Id: rs758940271
• gnomAD v2: 1-197390251-T-A
• MyVariant Identifiers: chr1:g.197390251T>A (hg19) ; chr1:g.197421121T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197421121T>A , CM000663.2:g.197421121T>A	GRCh38
NC_000001.10:g.197390251T>A , CM000663.1:g.197390251T>A	GRCh37
NC_000001.9:g.195656874T>A	NCBI36
NG_008483.1:g.157844T>A
NG_008483.2:g.224660T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367400.8:c.1293T>A MANE Select	ENSP00000356370.3:p.Thr431=
ENST00000638467.1:c.1293T>A	ENSP00000491102.1:p.Thr431=
ENST00000681519.1:c.174T>A	ENSP00000505267.1:p.Thr58=
ENST00000367397.1:c.-565T>A	ENSP00000356367.1:n.-565T>A
ENST00000367399.6:c.957T>A	ENSP00000356369.2:p.Thr319=
ENST00000367400.7:c.1293T>A	ENSP00000356370.3:p.Thr431=
ENST00000476483.1:n.253T>A
ENST00000484075.5:c.1293T>A	ENSP00000433932.1:p.Thr431=
ENST00000535699.5:c.1086T>A	ENSP00000438786.1:p.Thr362=
ENST00000538660.5:c.1293T>A	ENSP00000438091.1:p.Thr431=
NM_001193640.1:c.957T>A	NP_001180569.1:p.Thr319=
NM_001257965.1:c.1086T>A	NP_001244894.1:p.Thr362=
NM_001257966.1:c.1293T>A	NP_001244895.1:p.Thr431=
NM_201253.2:c.1293T>A	NP_957705.1:p.Thr431=
NR_047563.1:n.1502T>A
NR_047564.1:n.1502T>A
XM_011509365.1:c.1293T>A	XP_011507667.1:p.Thr431=
XM_011509366.1:c.1293T>A	XP_011507668.1:p.Thr431=
XM_011509367.1:c.1293T>A	XP_011507669.1:p.Thr431=
XM_011509368.1:c.711T>A	XP_011507670.1:p.Thr237=
XM_011509369.1:c.-265T>A	XP_011507671.1:n.-265T>A
XM_011509365.2:c.1293T>A	XP_011507667.1:p.Thr431=
XM_011509369.2:c.-265T>A	XP_011507671.1:n.-265T>A
XM_017000851.1:c.450T>A	XP_016856340.1:p.Thr150=
XM_017000852.1:c.1293T>A	XP_016856341.1:p.Thr431=
NM_201253.3:c.1293T>A MANE Select	NP_957705.1:p.Thr431=
NM_001193640.2:c.957T>A	NP_001180569.1:p.Thr319=
NM_001257965.2:c.1086T>A	NP_001244894.1:p.Thr362=
NR_047563.2:n.1454T>A
NR_047564.2:n.1454T>A
NM_001257966.2:c.1293T>A	NP_001244895.1:p.Thr431=