Canonical Allele Identifier: CA382644842

Gene: ANKK1

Linked Data

• MyVariant Identifiers: chr11:g.113270028T>C (hg19) ; chr11:g.113399306T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.113399306T>C , CM000673.2:g.113399306T>C	GRCh38
NC_000011.9:g.113270028T>C , CM000673.1:g.113270028T>C	GRCh37
NC_000011.8:g.112775238T>C	NCBI36
NG_012976.1:g.16516T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000303941.4:c.1337T>C MANE Select	ENSP00000306678.3:p.Leu446Pro
ENST00000303941.3:c.1337T>C	ENSP00000306678.3:p.Leu446Pro
NM_178510.1:c.1337T>C	NP_848605.1:p.Leu446Pro
XM_011542736.1:c.1370T>C	XP_011541038.1:p.Leu457Pro
XM_011542737.1:c.1340T>C	XP_011541039.1:p.Leu447Pro
XM_011542738.1:c.1148T>C	XP_011541040.1:p.Leu383Pro
XM_011542736.2:c.1370T>C	XP_011541038.1:p.Leu457Pro
XM_011542737.2:c.1340T>C	XP_011541039.1:p.Leu447Pro
XM_011542738.2:c.1148T>C	XP_011541040.1:p.Leu383Pro
XM_017017475.1:c.1367T>C	XP_016872964.1:p.Leu456Pro
NM_178510.2:c.1337T>C MANE Select	NP_848605.1:p.Leu446Pro