Canonical Allele Identifier: CA382644371

Gene: ANKK1

Linked Data

• dbSNP Id: rs1464608980
• gnomAD v2: 11-113269833-T-C
• gnomAD v4: 11-113399111-T-C
• MyVariant Identifiers: chr11:g.113269833T>C (hg19) ; chr11:g.113399111T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.113399111T>C , CM000673.2:g.113399111T>C	GRCh38
NC_000011.9:g.113269833T>C , CM000673.1:g.113269833T>C	GRCh37
NC_000011.8:g.112775043T>C	NCBI36
NG_012976.1:g.16321T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000303941.4:c.1142T>C MANE Select	ENSP00000306678.3:p.Leu381Pro
ENST00000303941.3:c.1142T>C	ENSP00000306678.3:p.Leu381Pro
NM_178510.1:c.1142T>C	NP_848605.1:p.Leu381Pro
XM_011542736.1:c.1175T>C	XP_011541038.1:p.Leu392Pro
XM_011542737.1:c.1145T>C	XP_011541039.1:p.Leu382Pro
XM_011542738.1:c.953T>C	XP_011541040.1:p.Leu318Pro
XM_011542736.2:c.1175T>C	XP_011541038.1:p.Leu392Pro
XM_011542737.2:c.1145T>C	XP_011541039.1:p.Leu382Pro
XM_011542738.2:c.953T>C	XP_011541040.1:p.Leu318Pro
XM_017017475.1:c.1172T>C	XP_016872964.1:p.Leu391Pro
NM_178510.2:c.1142T>C MANE Select	NP_848605.1:p.Leu381Pro