Canonical Allele Identifier: CA341749115

Gene: AMPD1

Linked Data

• MyVariant Identifiers: chr1:g.115220611C>A (hg19) ; chr1:g.114677990C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.114677990C>A , CM000663.2:g.114677990C>A	GRCh38
NC_000001.10:g.115220611C>A , CM000663.1:g.115220611C>A	GRCh37
NC_000001.9:g.115022134C>A	NCBI36
NG_008012.1:g.22566G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000369538.4:c.1132G>T	ENSP00000358551.4:p.Val378Leu
ENST00000520113.7:c.1144G>T MANE Select	ENSP00000430075.3:p.Val382Leu
ENST00000637080.1:c.927G>T	ENSP00000489753.1:n.927G>T
ENST00000639077.1:n.809G>T
ENST00000369538.3:c.1231G>T	ENSP00000358551.3:p.Val411Leu
ENST00000520113.6:c.1243G>T	ENSP00000430075.2:p.Val415Leu
NM_000036.2:c.1243G>T	NP_000027.2:p.Val415Leu
NM_001172626.1:c.1231G>T	NP_001166097.1:p.Val411Leu
NM_000036.3:c.1144G>T MANE Select	NP_000027.3:p.Val382Leu
NM_001172626.2:c.1132G>T	NP_001166097.2:p.Val378Leu