Canonical Allele Identifier: CA344030914

Gene: CRB1

Linked Data

• MyVariant Identifiers: chr1:g.197390398T>G (hg19) ; chr1:g.197421268T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197421268T>G , CM000663.2:g.197421268T>G	GRCh38
NC_000001.10:g.197390398T>G , CM000663.1:g.197390398T>G	GRCh37
NC_000001.9:g.195657021T>G	NCBI36
NG_008483.1:g.157991T>G
NG_008483.2:g.224807T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000367400.8:c.1440T>G MANE Select	ENSP00000356370.3:p.Cys480Trp
ENST00000638467.1:c.1440T>G	ENSP00000491102.1:p.Cys480Trp
ENST00000681519.1:c.321T>G	ENSP00000505267.1:p.Cys107Trp
ENST00000367397.1:c.-418T>G	ENSP00000356367.1:n.-418T>G
ENST00000367399.6:c.1104T>G	ENSP00000356369.2:p.Cys368Trp
ENST00000367400.7:c.1440T>G	ENSP00000356370.3:p.Cys480Trp
ENST00000476483.1:n.400T>G
ENST00000484075.5:c.1440T>G	ENSP00000433932.1:p.Cys480Trp
ENST00000535699.5:c.1233T>G	ENSP00000438786.1:p.Cys411Trp
ENST00000538660.5:c.1440T>G	ENSP00000438091.1:p.Cys480Trp
NM_001193640.1:c.1104T>G	NP_001180569.1:p.Cys368Trp
NM_001257965.1:c.1233T>G	NP_001244894.1:p.Cys411Trp
NM_001257966.1:c.1440T>G	NP_001244895.1:p.Cys480Trp
NM_201253.2:c.1440T>G	NP_957705.1:p.Cys480Trp
NR_047563.1:n.1649T>G
NR_047564.1:n.1649T>G
XM_011509365.1:c.1440T>G	XP_011507667.1:p.Cys480Trp
XM_011509366.1:c.1440T>G	XP_011507668.1:p.Cys480Trp
XM_011509367.1:c.1440T>G	XP_011507669.1:p.Cys480Trp
XM_011509368.1:c.858T>G	XP_011507670.1:p.Cys286Trp
XM_011509369.1:c.-118T>G	XP_011507671.1:n.-118T>G
XM_011509365.2:c.1440T>G	XP_011507667.1:p.Cys480Trp
XM_011509369.2:c.-118T>G	XP_011507671.1:n.-118T>G
XM_017000851.1:c.597T>G	XP_016856340.1:p.Cys199Trp
XM_017000852.1:c.1440T>G	XP_016856341.1:p.Cys480Trp
NM_201253.3:c.1440T>G MANE Select	NP_957705.1:p.Cys480Trp
NM_001193640.2:c.1104T>G	NP_001180569.1:p.Cys368Trp
NM_001257965.2:c.1233T>G	NP_001244894.1:p.Cys411Trp
NR_047563.2:n.1601T>G
NR_047564.2:n.1601T>G
NM_001257966.2:c.1440T>G	NP_001244895.1:p.Cys480Trp