Canonical Allele Identifier: CA341748593

Gene: AMPD1

Linked Data

• COSMIC: COSM3471652 ; COSM3471653
• MyVariant Identifiers: chr1:g.115220063G>A (hg19) ; chr1:g.114677442G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.114677442G>A , CM000663.2:g.114677442G>A	GRCh38
NC_000001.10:g.115220063G>A , CM000663.1:g.115220063G>A	GRCh37
NC_000001.9:g.115021586G>A	NCBI36
NG_008012.1:g.23114C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369538.4:c.1285C>T	ENSP00000358551.4:p.Pro429Ser
ENST00000520113.7:c.1297C>T MANE Select	ENSP00000430075.3:p.Pro433Ser
ENST00000637080.1:c.1080C>T	ENSP00000489753.1:n.1080C>T
ENST00000639077.1:n.962C>T
ENST00000369538.3:c.1384C>T	ENSP00000358551.3:p.Pro462Ser
ENST00000520113.6:c.1396C>T	ENSP00000430075.2:p.Pro466Ser
NM_000036.2:c.1396C>T	NP_000027.2:p.Pro466Ser
NM_001172626.1:c.1384C>T	NP_001166097.1:p.Pro462Ser
NM_000036.3:c.1297C>T MANE Select	NP_000027.3:p.Pro433Ser
NM_001172626.2:c.1285C>T	NP_001166097.2:p.Pro429Ser