Canonical Allele Identifier: CA344035922

Gene: CRB1

Linked Data

• dbSNP Id: rs1667268144
• MyVariant Identifiers: chr1:g.197446966T>A (hg19) ; chr1:g.197477836T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197477836T>A , CM000663.2:g.197477836T>A	GRCh38
NC_000001.10:g.197446966T>A , CM000663.1:g.197446966T>A	GRCh37
NC_000001.9:g.195713589T>A	NCBI36
NG_008483.1:g.214559T>A
NG_008483.2:g.281375T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367400.8:c.4178T>A MANE Select	ENSP00000356370.3:p.Met1393Lys
ENST00000367399.6:c.3842T>A	ENSP00000356369.2:p.Met1281Lys
ENST00000367400.7:c.4178T>A	ENSP00000356370.3:p.Met1393Lys
ENST00000448952.1:c.412T>A	ENSP00000395407.1:n.412T>A
ENST00000484075.5:c.*289T>A	ENSP00000433932.1:n.*289T>A
ENST00000535699.5:c.4106T>A	ENSP00000438786.1:p.Met1369Lys
ENST00000538660.5:c.2570T>A	ENSP00000438091.1:p.Met857Lys
NM_001193640.1:c.3842T>A	NP_001180569.1:p.Met1281Lys
NM_001257965.1:c.4106T>A	NP_001244894.1:p.Met1369Lys
NM_001257966.1:c.2570T>A	NP_001244895.1:p.Met857Lys
NM_201253.2:c.4178T>A	NP_957705.1:p.Met1393Lys
NR_047563.1:n.4179T>A
NR_047564.1:n.4629T>A
XM_011509366.1:c.*283T>A	XP_011507668.1:n.*283T>A
XM_011509367.1:c.*157T>A	XP_011507669.1:n.*157T>A
XM_011509368.1:c.3596T>A	XP_011507670.1:p.Met1199Lys
XM_011509369.1:c.2621T>A	XP_011507671.1:p.Met874Lys
XM_011509369.2:c.2621T>A	XP_011507671.1:p.Met874Lys
XM_017000851.1:c.3335T>A	XP_016856340.1:p.Met1112Lys
XM_017000852.1:c.4313T>A	XP_016856341.1:p.Met1438Lys
NM_201253.3:c.4178T>A MANE Select	NP_957705.1:p.Met1393Lys
NM_001193640.2:c.3842T>A	NP_001180569.1:p.Met1281Lys
NM_001257965.2:c.4106T>A	NP_001244894.1:p.Met1369Lys
NR_047563.2:n.4131T>A
NR_047564.2:n.4581T>A
NM_001257966.2:c.2570T>A	NP_001244895.1:p.Met857Lys