Canonical Allele Identifier: CA414208120

Gene: C1GALT1C1

Linked Data

• MyVariant Identifiers: chrX:g.119760451C>G (hg19) ; chrX:g.120626596C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.120626596C>G , CM000685.2:g.120626596C>G	GRCh38
NC_000023.10:g.119760451C>G , CM000685.1:g.119760451C>G	GRCh37
NC_000023.9:g.119644479C>G	NCBI36
NG_016219.1:g.8555G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304661.6:c.571G>C MANE Select	ENSP00000304364.5:p.Val191Leu
ENST00000304661.5:c.571G>C	ENSP00000304364.5:p.Val191Leu
ENST00000371313.2:c.571G>C	ENSP00000360363.2:p.Val191Leu
NM_001011551.2:c.571G>C	NP_001011551.1:p.Val191Leu
NM_152692.4:c.571G>C	NP_689905.1:p.Val191Leu
NM_001011551.3:c.571G>C MANE Select	NP_001011551.1:p.Val191Leu
NM_152692.5:c.571G>C	NP_689905.1:p.Val191Leu