Canonical Allele Identifier: CA344035988

Gene: CRB1

Linked Data

• MyVariant Identifiers: chr1:g.197446975T>A (hg19) ; chr1:g.197477845T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197477845T>A , CM000663.2:g.197477845T>A	GRCh38
NC_000001.10:g.197446975T>A , CM000663.1:g.197446975T>A	GRCh37
NC_000001.9:g.195713598T>A	NCBI36
NG_008483.1:g.214568T>A
NG_008483.2:g.281384T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367400.8:c.4187T>A MANE Select	ENSP00000356370.3:p.Leu1396Ter
ENST00000367399.6:c.3851T>A	ENSP00000356369.2:p.Leu1284Ter
ENST00000367400.7:c.4187T>A	ENSP00000356370.3:p.Leu1396Ter
ENST00000448952.1:c.421T>A	ENSP00000395407.1:n.421T>A
ENST00000484075.5:c.*298T>A	ENSP00000433932.1:n.*298T>A
ENST00000535699.5:c.4115T>A	ENSP00000438786.1:p.Leu1372Ter
ENST00000538660.5:c.2579T>A	ENSP00000438091.1:p.Leu860Ter
NM_001193640.1:c.3851T>A	NP_001180569.1:p.Leu1284Ter
NM_001257965.1:c.4115T>A	NP_001244894.1:p.Leu1372Ter
NM_001257966.1:c.2579T>A	NP_001244895.1:p.Leu860Ter
NM_201253.2:c.4187T>A	NP_957705.1:p.Leu1396Ter
NR_047563.1:n.4188T>A
NR_047564.1:n.4638T>A
XM_011509366.1:c.*292T>A	XP_011507668.1:n.*292T>A
XM_011509367.1:c.*166T>A	XP_011507669.1:n.*166T>A
XM_011509368.1:c.3605T>A	XP_011507670.1:p.Leu1202Ter
XM_011509369.1:c.2630T>A	XP_011507671.1:p.Leu877Ter
XM_011509369.2:c.2630T>A	XP_011507671.1:p.Leu877Ter
XM_017000851.1:c.3344T>A	XP_016856340.1:p.Leu1115Ter
XM_017000852.1:c.4322T>A	XP_016856341.1:p.Leu1441Ter
NM_201253.3:c.4187T>A MANE Select	NP_957705.1:p.Leu1396Ter
NM_001193640.2:c.3851T>A	NP_001180569.1:p.Leu1284Ter
NM_001257965.2:c.4115T>A	NP_001244894.1:p.Leu1372Ter
NR_047563.2:n.4140T>A
NR_047564.2:n.4590T>A
NM_001257966.2:c.2579T>A	NP_001244895.1:p.Leu860Ter