Canonical Allele Identifier: CA1020411

Gene: AMPD1

Linked Data

• dbSNP Id: rs775843694
• ExAC: 1:115226845 C / A
• gnomAD v2: 1-115226845-C-A
• gnomAD v4: 1-114684224-C-A
• MyVariant Identifiers: chr1:g.115226845C>A (hg19) ; chr1:g.114684224C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.114684224C>A , CM000663.2:g.114684224C>A	GRCh38
NC_000001.10:g.115226845C>A , CM000663.1:g.115226845C>A	GRCh37
NC_000001.9:g.115028368C>A	NCBI36
NG_008012.1:g.16332G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369538.4:c.510G>T	ENSP00000358551.4:p.Trp170Cys
ENST00000520113.7:c.522G>T MANE Select	ENSP00000430075.3:p.Trp174Cys
ENST00000637080.1:c.525G>T	ENSP00000489753.1:p.Trp175Cys
ENST00000639077.1:n.187G>T
ENST00000369538.3:c.609G>T	ENSP00000358551.3:p.Trp203Cys
ENST00000485564.3:n.396G>T
ENST00000520113.6:c.621G>T	ENSP00000430075.2:p.Trp207Cys
NM_000036.2:c.621G>T	NP_000027.2:p.Trp207Cys
NM_001172626.1:c.609G>T	NP_001166097.1:p.Trp203Cys
NM_000036.3:c.522G>T MANE Select	NP_000027.3:p.Trp174Cys
NM_001172626.2:c.510G>T	NP_001166097.2:p.Trp170Cys