Canonical Allele Identifier: CA382647170

Gene: ANKK1

Linked Data

• MyVariant Identifiers: chr11:g.113270744G>C (hg19) ; chr11:g.113400022G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.113400022G>C , CM000673.2:g.113400022G>C	GRCh38
NC_000011.9:g.113270744G>C , CM000673.1:g.113270744G>C	GRCh37
NC_000011.8:g.112775954G>C	NCBI36
NG_012976.1:g.17232G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000303941.4:c.2053G>C MANE Select	ENSP00000306678.3:p.Val685Leu
ENST00000303941.3:c.2053G>C	ENSP00000306678.3:p.Val685Leu
NM_178510.1:c.2053G>C	NP_848605.1:p.Val685Leu
XM_011542736.1:c.2086G>C	XP_011541038.1:p.Val696Leu
XM_011542737.1:c.2056G>C	XP_011541039.1:p.Val686Leu
XM_011542738.1:c.1864G>C	XP_011541040.1:p.Val622Leu
XM_011542736.2:c.2086G>C	XP_011541038.1:p.Val696Leu
XM_011542737.2:c.2056G>C	XP_011541039.1:p.Val686Leu
XM_011542738.2:c.1864G>C	XP_011541040.1:p.Val622Leu
XM_017017475.1:c.2083G>C	XP_016872964.1:p.Val695Leu
NM_178510.2:c.2053G>C MANE Select	NP_848605.1:p.Val685Leu