Canonical Allele Identifier: CA382644855

Gene: ANKK1

Linked Data

• MyVariant Identifiers: chr11:g.113270031T>G (hg19) ; chr11:g.113399309T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.113399309T>G , CM000673.2:g.113399309T>G	GRCh38
NC_000011.9:g.113270031T>G , CM000673.1:g.113270031T>G	GRCh37
NC_000011.8:g.112775241T>G	NCBI36
NG_012976.1:g.16519T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000303941.4:c.1340T>G MANE Select	ENSP00000306678.3:p.Leu447Arg
ENST00000303941.3:c.1340T>G	ENSP00000306678.3:p.Leu447Arg
NM_178510.1:c.1340T>G	NP_848605.1:p.Leu447Arg
XM_011542736.1:c.1373T>G	XP_011541038.1:p.Leu458Arg
XM_011542737.1:c.1343T>G	XP_011541039.1:p.Leu448Arg
XM_011542738.1:c.1151T>G	XP_011541040.1:p.Leu384Arg
XM_011542736.2:c.1373T>G	XP_011541038.1:p.Leu458Arg
XM_011542737.2:c.1343T>G	XP_011541039.1:p.Leu448Arg
XM_011542738.2:c.1151T>G	XP_011541040.1:p.Leu384Arg
XM_017017475.1:c.1370T>G	XP_016872964.1:p.Leu457Arg
NM_178510.2:c.1340T>G MANE Select	NP_848605.1:p.Leu447Arg