Canonical Allele Identifier: CA341750044

Gene: AMPD1

Linked Data

• gnomAD v4: 1-114679613-T-C
• MyVariant Identifiers: chr1:g.115222234T>C (hg19) ; chr1:g.114679613T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.114679613T>C , CM000663.2:g.114679613T>C	GRCh38
NC_000001.10:g.115222234T>C , CM000663.1:g.115222234T>C	GRCh37
NC_000001.9:g.115023757T>C	NCBI36
NG_008012.1:g.20943A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369538.4:c.851A>G	ENSP00000358551.4:p.Asn284Ser
ENST00000520113.7:c.863A>G MANE Select	ENSP00000430075.3:p.Asn288Ser
ENST00000637080.1:c.646A>G	ENSP00000489753.1:n.646A>G
ENST00000639077.1:n.528A>G
ENST00000369538.3:c.950A>G	ENSP00000358551.3:p.Asn317Ser
ENST00000520113.6:c.962A>G	ENSP00000430075.2:p.Asn321Ser
NM_000036.2:c.962A>G	NP_000027.2:p.Asn321Ser
NM_001172626.1:c.950A>G	NP_001166097.1:p.Asn317Ser
NM_000036.3:c.863A>G MANE Select	NP_000027.3:p.Asn288Ser
NM_001172626.2:c.851A>G	NP_001166097.2:p.Asn284Ser