Canonical Allele Identifier: CA341752543

Gene: AMPD1

Linked Data

• MyVariant Identifiers: chr1:g.115226885G>C (hg19) ; chr1:g.114684264G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.114684264G>C , CM000663.2:g.114684264G>C	GRCh38
NC_000001.10:g.115226885G>C , CM000663.1:g.115226885G>C	GRCh37
NC_000001.9:g.115028408G>C	NCBI36
NG_008012.1:g.16292C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369538.4:c.470C>G	ENSP00000358551.4:p.Thr157Ser
ENST00000520113.7:c.482C>G MANE Select	ENSP00000430075.3:p.Thr161Ser
ENST00000637080.1:c.485C>G	ENSP00000489753.1:p.Thr162Ser
ENST00000639077.1:n.147C>G
ENST00000369538.3:c.569C>G	ENSP00000358551.3:p.Thr190Ser
ENST00000485564.3:n.356C>G
ENST00000520113.6:c.581C>G	ENSP00000430075.2:p.Thr194Ser
NM_000036.2:c.581C>G	NP_000027.2:p.Thr194Ser
NM_001172626.1:c.569C>G	NP_001166097.1:p.Thr190Ser
NM_000036.3:c.482C>G MANE Select	NP_000027.3:p.Thr161Ser
NM_001172626.2:c.470C>G	NP_001166097.2:p.Thr157Ser