Canonical Allele Identifier: CA341752619

Gene: AMPD1

Linked Data

• gnomAD v4: 1-114684285-G-T
• MyVariant Identifiers: chr1:g.115226906G>T (hg19) ; chr1:g.114684285G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.114684285G>T , CM000663.2:g.114684285G>T	GRCh38
NC_000001.10:g.115226906G>T , CM000663.1:g.115226906G>T	GRCh37
NC_000001.9:g.115028429G>T	NCBI36
NG_008012.1:g.16271C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369538.4:c.449C>A	ENSP00000358551.4:p.Ser150Ter
ENST00000520113.7:c.461C>A MANE Select	ENSP00000430075.3:p.Ser154Ter
ENST00000637080.1:c.464C>A	ENSP00000489753.1:p.Ser155Ter
ENST00000639077.1:n.126C>A
ENST00000369538.3:c.548C>A	ENSP00000358551.3:p.Ser183Ter
ENST00000485564.3:n.335C>A
ENST00000520113.6:c.560C>A	ENSP00000430075.2:p.Ser187Ter
NM_000036.2:c.560C>A	NP_000027.2:p.Ser187Ter
NM_001172626.1:c.548C>A	NP_001166097.1:p.Ser183Ter
NM_000036.3:c.461C>A MANE Select	NP_000027.3:p.Ser154Ter
NM_001172626.2:c.449C>A	NP_001166097.2:p.Ser150Ter