Canonical Allele Identifier: CA341748693

Gene: AMPD1

Linked Data

• MyVariant Identifiers: chr1:g.115220098T>A (hg19) ; chr1:g.114677477T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.114677477T>A , CM000663.2:g.114677477T>A	GRCh38
NC_000001.10:g.115220098T>A , CM000663.1:g.115220098T>A	GRCh37
NC_000001.9:g.115021621T>A	NCBI36
NG_008012.1:g.23079A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369538.4:c.1250A>T	ENSP00000358551.4:p.His417Leu
ENST00000520113.7:c.1262A>T MANE Select	ENSP00000430075.3:p.His421Leu
ENST00000637080.1:c.1045A>T	ENSP00000489753.1:n.1045A>T
ENST00000639077.1:n.927A>T
ENST00000369538.3:c.1349A>T	ENSP00000358551.3:p.His450Leu
ENST00000520113.6:c.1361A>T	ENSP00000430075.2:p.His454Leu
NM_000036.2:c.1361A>T	NP_000027.2:p.His454Leu
NM_001172626.1:c.1349A>T	NP_001166097.1:p.His450Leu
NM_000036.3:c.1262A>T MANE Select	NP_000027.3:p.His421Leu
NM_001172626.2:c.1250A>T	NP_001166097.2:p.His417Leu