Canonical Allele Identifier: CA382644866

Gene: ANKK1

Linked Data

• MyVariant Identifiers: chr11:g.113270034T>G (hg19) ; chr11:g.113399312T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.113399312T>G , CM000673.2:g.113399312T>G	GRCh38
NC_000011.9:g.113270034T>G , CM000673.1:g.113270034T>G	GRCh37
NC_000011.8:g.112775244T>G	NCBI36
NG_012976.1:g.16522T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000303941.4:c.1343T>G MANE Select	ENSP00000306678.3:p.Leu448Arg
ENST00000303941.3:c.1343T>G	ENSP00000306678.3:p.Leu448Arg
NM_178510.1:c.1343T>G	NP_848605.1:p.Leu448Arg
XM_011542736.1:c.1376T>G	XP_011541038.1:p.Leu459Arg
XM_011542737.1:c.1346T>G	XP_011541039.1:p.Leu449Arg
XM_011542738.1:c.1154T>G	XP_011541040.1:p.Leu385Arg
XM_011542736.2:c.1376T>G	XP_011541038.1:p.Leu459Arg
XM_011542737.2:c.1346T>G	XP_011541039.1:p.Leu449Arg
XM_011542738.2:c.1154T>G	XP_011541040.1:p.Leu385Arg
XM_017017475.1:c.1373T>G	XP_016872964.1:p.Leu458Arg
NM_178510.2:c.1343T>G MANE Select	NP_848605.1:p.Leu448Arg