Canonical Allele Identifier: CA341748751

Gene: AMPD1

Linked Data

• MyVariant Identifiers: chr1:g.115220126C>A (hg19) ; chr1:g.114677505C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.114677505C>A , CM000663.2:g.114677505C>A	GRCh38
NC_000001.10:g.115220126C>A , CM000663.1:g.115220126C>A	GRCh37
NC_000001.9:g.115021649C>A	NCBI36
NG_008012.1:g.23051G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369538.4:c.1222G>T	ENSP00000358551.4:p.Ala408Ser
ENST00000520113.7:c.1234G>T MANE Select	ENSP00000430075.3:p.Ala412Ser
ENST00000637080.1:c.1017G>T	ENSP00000489753.1:n.1017G>T
ENST00000639077.1:n.899G>T
ENST00000369538.3:c.1321G>T	ENSP00000358551.3:p.Ala441Ser
ENST00000520113.6:c.1333G>T	ENSP00000430075.2:p.Ala445Ser
NM_000036.2:c.1333G>T	NP_000027.2:p.Ala445Ser
NM_001172626.1:c.1321G>T	NP_001166097.1:p.Ala441Ser
NM_000036.3:c.1234G>T MANE Select	NP_000027.3:p.Ala412Ser
NM_001172626.2:c.1222G>T	NP_001166097.2:p.Ala408Ser