Canonical Allele Identifier: CA382646777

Gene: ANKK1

Linked Data

• dbSNP Id: rs1950686560
• gnomAD v4: 11-113399924-C-T
• MyVariant Identifiers: chr11:g.113270646C>T (hg19) ; chr11:g.113399924C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.113399924C>T , CM000673.2:g.113399924C>T	GRCh38
NC_000011.9:g.113270646C>T , CM000673.1:g.113270646C>T	GRCh37
NC_000011.8:g.112775856C>T	NCBI36
NG_012976.1:g.17134C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000303941.4:c.1955C>T MANE Select	ENSP00000306678.3:p.Pro652Leu
ENST00000303941.3:c.1955C>T	ENSP00000306678.3:p.Pro652Leu
NM_178510.1:c.1955C>T	NP_848605.1:p.Pro652Leu
XM_011542736.1:c.1988C>T	XP_011541038.1:p.Pro663Leu
XM_011542737.1:c.1958C>T	XP_011541039.1:p.Pro653Leu
XM_011542738.1:c.1766C>T	XP_011541040.1:p.Pro589Leu
XM_011542736.2:c.1988C>T	XP_011541038.1:p.Pro663Leu
XM_011542737.2:c.1958C>T	XP_011541039.1:p.Pro653Leu
XM_011542738.2:c.1766C>T	XP_011541040.1:p.Pro589Leu
XM_017017475.1:c.1985C>T	XP_016872964.1:p.Pro662Leu
NM_178510.2:c.1955C>T MANE Select	NP_848605.1:p.Pro652Leu