Canonical Allele Identifier: CA382644483

Gene: ANKK1

Linked Data

• MyVariant Identifiers: chr11:g.113269886C>T (hg19) ; chr11:g.113399164C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.113399164C>T , CM000673.2:g.113399164C>T	GRCh38
NC_000011.9:g.113269886C>T , CM000673.1:g.113269886C>T	GRCh37
NC_000011.8:g.112775096C>T	NCBI36
NG_012976.1:g.16374C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000303941.4:c.1195C>T MANE Select	ENSP00000306678.3:p.Leu399Phe
ENST00000303941.3:c.1195C>T	ENSP00000306678.3:p.Leu399Phe
NM_178510.1:c.1195C>T	NP_848605.1:p.Leu399Phe
XM_011542736.1:c.1228C>T	XP_011541038.1:p.Leu410Phe
XM_011542737.1:c.1198C>T	XP_011541039.1:p.Leu400Phe
XM_011542738.1:c.1006C>T	XP_011541040.1:p.Leu336Phe
XM_011542736.2:c.1228C>T	XP_011541038.1:p.Leu410Phe
XM_011542737.2:c.1198C>T	XP_011541039.1:p.Leu400Phe
XM_011542738.2:c.1006C>T	XP_011541040.1:p.Leu336Phe
XM_017017475.1:c.1225C>T	XP_016872964.1:p.Leu409Phe
NM_178510.2:c.1195C>T MANE Select	NP_848605.1:p.Leu399Phe