Canonical Allele Identifier: CA344036075

Gene: CRB1

Linked Data

• MyVariant Identifiers: chr1:g.197446994G>C (hg19) ; chr1:g.197477864G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197477864G>C , CM000663.2:g.197477864G>C	GRCh38
NC_000001.10:g.197446994G>C , CM000663.1:g.197446994G>C	GRCh37
NC_000001.9:g.195713617G>C	NCBI36
NG_008483.1:g.214587G>C
NG_008483.2:g.281403G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367400.8:c.4206G>C MANE Select	ENSP00000356370.3:p.Met1402Ile
ENST00000367399.6:c.3870G>C	ENSP00000356369.2:p.Met1290Ile
ENST00000367400.7:c.4206G>C	ENSP00000356370.3:p.Met1402Ile
ENST00000448952.1:c.440G>C	ENSP00000395407.1:n.440G>C
ENST00000484075.5:c.*317G>C	ENSP00000433932.1:n.*317G>C
ENST00000535699.5:c.4134G>C	ENSP00000438786.1:p.Met1378Ile
ENST00000538660.5:c.2598G>C	ENSP00000438091.1:p.Met866Ile
NM_001193640.1:c.3870G>C	NP_001180569.1:p.Met1290Ile
NM_001257965.1:c.4134G>C	NP_001244894.1:p.Met1378Ile
NM_001257966.1:c.2598G>C	NP_001244895.1:p.Met866Ile
NM_201253.2:c.4206G>C	NP_957705.1:p.Met1402Ile
NR_047563.1:n.4207G>C
NR_047564.1:n.4657G>C
XM_011509366.1:c.*311G>C	XP_011507668.1:n.*311G>C
XM_011509367.1:c.*185G>C	XP_011507669.1:n.*185G>C
XM_011509368.1:c.3624G>C	XP_011507670.1:p.Met1208Ile
XM_011509369.1:c.2649G>C	XP_011507671.1:p.Met883Ile
XM_011509369.2:c.2649G>C	XP_011507671.1:p.Met883Ile
XM_017000851.1:c.3363G>C	XP_016856340.1:p.Met1121Ile
XM_017000852.1:c.4341G>C	XP_016856341.1:p.Met1447Ile
NM_201253.3:c.4206G>C MANE Select	NP_957705.1:p.Met1402Ile
NM_001193640.2:c.3870G>C	NP_001180569.1:p.Met1290Ile
NM_001257965.2:c.4134G>C	NP_001244894.1:p.Met1378Ile
NR_047563.2:n.4159G>C
NR_047564.2:n.4609G>C
NM_001257966.2:c.2598G>C	NP_001244895.1:p.Met866Ile