Canonical Allele Identifier: CA382644401

Gene: ANKK1

Linked Data

• dbSNP Id: rs1462990866
• gnomAD v2: 11-113269847-G-T
• gnomAD v4: 11-113399125-G-T
• MyVariant Identifiers: chr11:g.113269847G>T (hg19) ; chr11:g.113399125G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.113399125G>T , CM000673.2:g.113399125G>T	GRCh38
NC_000011.9:g.113269847G>T , CM000673.1:g.113269847G>T	GRCh37
NC_000011.8:g.112775057G>T	NCBI36
NG_012976.1:g.16335G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000303941.4:c.1156G>T MANE Select	ENSP00000306678.3:p.Val386Leu
ENST00000303941.3:c.1156G>T	ENSP00000306678.3:p.Val386Leu
NM_178510.1:c.1156G>T	NP_848605.1:p.Val386Leu
XM_011542736.1:c.1189G>T	XP_011541038.1:p.Val397Leu
XM_011542737.1:c.1159G>T	XP_011541039.1:p.Val387Leu
XM_011542738.1:c.967G>T	XP_011541040.1:p.Val323Leu
XM_011542736.2:c.1189G>T	XP_011541038.1:p.Val397Leu
XM_011542737.2:c.1159G>T	XP_011541039.1:p.Val387Leu
XM_011542738.2:c.967G>T	XP_011541040.1:p.Val323Leu
XM_017017475.1:c.1186G>T	XP_016872964.1:p.Val396Leu
NM_178510.2:c.1156G>T MANE Select	NP_848605.1:p.Val386Leu