Canonical Allele Identifier: CA344036007

Gene: CRB1

Linked Data

• MyVariant Identifiers: chr1:g.197446979G>A (hg19) ; chr1:g.197477849G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197477849G>A , CM000663.2:g.197477849G>A	GRCh38
NC_000001.10:g.197446979G>A , CM000663.1:g.197446979G>A	GRCh37
NC_000001.9:g.195713602G>A	NCBI36
NG_008483.1:g.214572G>A
NG_008483.2:g.281388G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367400.8:c.4191G>A MANE Select	ENSP00000356370.3:p.Met1397Ile
ENST00000367399.6:c.3855G>A	ENSP00000356369.2:p.Met1285Ile
ENST00000367400.7:c.4191G>A	ENSP00000356370.3:p.Met1397Ile
ENST00000448952.1:c.425G>A	ENSP00000395407.1:n.425G>A
ENST00000484075.5:c.*302G>A	ENSP00000433932.1:n.*302G>A
ENST00000535699.5:c.4119G>A	ENSP00000438786.1:p.Met1373Ile
ENST00000538660.5:c.2583G>A	ENSP00000438091.1:p.Met861Ile
NM_001193640.1:c.3855G>A	NP_001180569.1:p.Met1285Ile
NM_001257965.1:c.4119G>A	NP_001244894.1:p.Met1373Ile
NM_001257966.1:c.2583G>A	NP_001244895.1:p.Met861Ile
NM_201253.2:c.4191G>A	NP_957705.1:p.Met1397Ile
NR_047563.1:n.4192G>A
NR_047564.1:n.4642G>A
XM_011509366.1:c.*296G>A	XP_011507668.1:n.*296G>A
XM_011509367.1:c.*170G>A	XP_011507669.1:n.*170G>A
XM_011509368.1:c.3609G>A	XP_011507670.1:p.Met1203Ile
XM_011509369.1:c.2634G>A	XP_011507671.1:p.Met878Ile
XM_011509369.2:c.2634G>A	XP_011507671.1:p.Met878Ile
XM_017000851.1:c.3348G>A	XP_016856340.1:p.Met1116Ile
XM_017000852.1:c.4326G>A	XP_016856341.1:p.Met1442Ile
NM_201253.3:c.4191G>A MANE Select	NP_957705.1:p.Met1397Ile
NM_001193640.2:c.3855G>A	NP_001180569.1:p.Met1285Ile
NM_001257965.2:c.4119G>A	NP_001244894.1:p.Met1373Ile
NR_047563.2:n.4144G>A
NR_047564.2:n.4594G>A
NM_001257966.2:c.2583G>A	NP_001244895.1:p.Met861Ile