Canonical Allele Identifier: CA344035543

Gene: CRB1

Linked Data

• MyVariant Identifiers: chr1:g.197446864T>G (hg19) ; chr1:g.197477734T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197477734T>G , CM000663.2:g.197477734T>G	GRCh38
NC_000001.10:g.197446864T>G , CM000663.1:g.197446864T>G	GRCh37
NC_000001.9:g.195713487T>G	NCBI36
NG_008483.1:g.214457T>G
NG_008483.2:g.281273T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367400.8:c.4076T>G MANE Select	ENSP00000356370.3:p.Leu1359Arg
ENST00000367399.6:c.3740T>G	ENSP00000356369.2:p.Leu1247Arg
ENST00000367400.7:c.4076T>G	ENSP00000356370.3:p.Leu1359Arg
ENST00000448952.1:c.310T>G	ENSP00000395407.1:n.310T>G
ENST00000484075.5:c.*187T>G	ENSP00000433932.1:n.*187T>G
ENST00000535699.5:c.4004T>G	ENSP00000438786.1:p.Leu1335Arg
ENST00000538660.5:c.2468T>G	ENSP00000438091.1:p.Leu823Arg
NM_001193640.1:c.3740T>G	NP_001180569.1:p.Leu1247Arg
NM_001257965.1:c.4004T>G	NP_001244894.1:p.Leu1335Arg
NM_001257966.1:c.2468T>G	NP_001244895.1:p.Leu823Arg
NM_201253.2:c.4076T>G	NP_957705.1:p.Leu1359Arg
NR_047563.1:n.4077T>G
NR_047564.1:n.4527T>G
XM_011509366.1:c.*181T>G	XP_011507668.1:n.*181T>G
XM_011509367.1:c.*55T>G	XP_011507669.1:n.*55T>G
XM_011509368.1:c.3494T>G	XP_011507670.1:p.Leu1165Arg
XM_011509369.1:c.2519T>G	XP_011507671.1:p.Leu840Arg
XM_011509369.2:c.2519T>G	XP_011507671.1:p.Leu840Arg
XM_017000851.1:c.3233T>G	XP_016856340.1:p.Leu1078Arg
XM_017000852.1:c.4211T>G	XP_016856341.1:p.Leu1404Arg
NM_201253.3:c.4076T>G MANE Select	NP_957705.1:p.Leu1359Arg
NM_001193640.2:c.3740T>G	NP_001180569.1:p.Leu1247Arg
NM_001257965.2:c.4004T>G	NP_001244894.1:p.Leu1335Arg
NR_047563.2:n.4029T>G
NR_047564.2:n.4479T>G
NM_001257966.2:c.2468T>G	NP_001244895.1:p.Leu823Arg