Canonical Allele Identifier: CA382644839

Gene: ANKK1

Linked Data

• MyVariant Identifiers: chr11:g.113270027C>G (hg19) ; chr11:g.113399305C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.113399305C>G , CM000673.2:g.113399305C>G	GRCh38
NC_000011.9:g.113270027C>G , CM000673.1:g.113270027C>G	GRCh37
NC_000011.8:g.112775237C>G	NCBI36
NG_012976.1:g.16515C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000303941.4:c.1336C>G MANE Select	ENSP00000306678.3:p.Leu446Val
ENST00000303941.3:c.1336C>G	ENSP00000306678.3:p.Leu446Val
NM_178510.1:c.1336C>G	NP_848605.1:p.Leu446Val
XM_011542736.1:c.1369C>G	XP_011541038.1:p.Leu457Val
XM_011542737.1:c.1339C>G	XP_011541039.1:p.Leu447Val
XM_011542738.1:c.1147C>G	XP_011541040.1:p.Leu383Val
XM_011542736.2:c.1369C>G	XP_011541038.1:p.Leu457Val
XM_011542737.2:c.1339C>G	XP_011541039.1:p.Leu447Val
XM_011542738.2:c.1147C>G	XP_011541040.1:p.Leu383Val
XM_017017475.1:c.1366C>G	XP_016872964.1:p.Leu456Val
NM_178510.2:c.1336C>G MANE Select	NP_848605.1:p.Leu446Val