Canonical Allele Identifier: CA382645084

Gene: ANKK1

Linked Data

• dbSNP Id: rs1591265226
• MyVariant Identifiers: chr11:g.113270094C>T (hg19) ; chr11:g.113399372C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.113399372C>T , CM000673.2:g.113399372C>T	GRCh38
NC_000011.9:g.113270094C>T , CM000673.1:g.113270094C>T	GRCh37
NC_000011.8:g.112775304C>T	NCBI36
NG_012976.1:g.16582C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000303941.4:c.1403C>T MANE Select	ENSP00000306678.3:p.Ala468Val
ENST00000303941.3:c.1403C>T	ENSP00000306678.3:p.Ala468Val
NM_178510.1:c.1403C>T	NP_848605.1:p.Ala468Val
XM_011542736.1:c.1436C>T	XP_011541038.1:p.Ala479Val
XM_011542737.1:c.1406C>T	XP_011541039.1:p.Ala469Val
XM_011542738.1:c.1214C>T	XP_011541040.1:p.Ala405Val
XM_011542736.2:c.1436C>T	XP_011541038.1:p.Ala479Val
XM_011542737.2:c.1406C>T	XP_011541039.1:p.Ala469Val
XM_011542738.2:c.1214C>T	XP_011541040.1:p.Ala405Val
XM_017017475.1:c.1433C>T	XP_016872964.1:p.Ala478Val
NM_178510.2:c.1403C>T MANE Select	NP_848605.1:p.Ala468Val