Canonical Allele Identifier: CA341559022

Gene: AMPD2

Linked Data

• gnomAD v4: 1-109628682-G-A
• MyVariant Identifiers: chr1:g.110171304G>A (hg19) ; chr1:g.109628682G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.109628682G>A , CM000663.2:g.109628682G>A	GRCh38
NC_000001.10:g.110171304G>A , CM000663.1:g.110171304G>A	GRCh37
NC_000001.9:g.109972827G>A	NCBI36
NG_034075.1:g.13870G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000256578.8:c.1447G>A	ENSP00000256578.4:p.Ala483Thr
ENST00000358729.9:c.1447G>A	ENSP00000351573.5:p.Ala483Thr
ENST00000369840.7:c.1447G>A	ENSP00000358855.3:p.Ala483Thr
ENST00000474459.6:n.2066G>A
ENST00000476688.3:c.1129G>A	ENSP00000437025.2:p.Ala377Thr
ENST00000486282.7:n.2403G>A
ENST00000524975.2:n.1928G>A
ENST00000525415.2:n.1963G>A
ENST00000526301.6:n.1510G>A
ENST00000527846.7:n.1302G>A
ENST00000528667.7:c.1447G>A MANE Select	ENSP00000436541.2:p.Ala483Thr
ENST00000531203.6:c.1255G>A	ENSP00000431975.2:p.Ala419Thr
ENST00000531734.6:c.1366G>A	ENSP00000433739.2:p.Ala456Thr
ENST00000652975.2:c.*1199G>A	ENSP00000499620.2:n.*1199G>A
ENST00000654851.1:n.1289G>A
ENST00000655992.1:c.1255G>A	ENSP00000499740.1:p.Ala419Thr
ENST00000659122.2:c.1407+187G>A	ENSP00000499621.2:n.1407+187G>A
ENST00000663749.1:c.*1194G>A	ENSP00000499739.1:n.*1194G>A
ENST00000667949.2:c.847G>A	ENSP00000499465.2:p.Ala283Thr
ENST00000668421.1:c.*1388G>A	ENSP00000499362.1:n.*1388G>A
ENST00000679379.1:c.*1199G>A	ENSP00000505528.1:n.*1199G>A
ENST00000679593.1:c.1447G>A	ENSP00000505999.1:p.Ala483Thr
ENST00000679880.1:n.1983G>A
ENST00000679892.1:c.*1215G>A	ENSP00000504882.1:n.*1215G>A
ENST00000679981.1:c.*1461G>A	ENSP00000506422.1:n.*1461G>A
ENST00000680132.1:c.*1397G>A	ENSP00000505950.1:n.*1397G>A
ENST00000680148.1:c.*1199G>A	ENSP00000505994.1:n.*1199G>A
ENST00000680170.1:n.2312G>A
ENST00000680192.1:n.2405G>A
ENST00000680519.1:n.1683G>A
ENST00000680531.1:c.*1194G>A	ENSP00000506332.1:n.*1194G>A
ENST00000680820.1:c.*1199G>A	ENSP00000505735.1:n.*1199G>A
ENST00000680832.1:c.*1547G>A	ENSP00000505774.1:n.*1547G>A
ENST00000680929.1:c.*1136G>A	ENSP00000504916.1:n.*1136G>A
ENST00000681108.1:c.*1245+187G>A	ENSP00000506701.1:n.*1245+187G>A
ENST00000681121.1:c.*557G>A	ENSP00000506466.1:n.*557G>A
ENST00000681132.1:c.*1213G>A	ENSP00000506195.1:n.*1213G>A
ENST00000681181.1:c.*1432G>A	ENSP00000506038.1:n.*1432G>A
ENST00000681218.1:c.*1720G>A	ENSP00000505976.1:n.*1720G>A
ENST00000681246.1:c.*1103G>A	ENSP00000505534.1:n.*1103G>A
ENST00000681496.1:c.*1720G>A	ENSP00000505948.1:n.*1720G>A
ENST00000681834.1:n.1786G>A
ENST00000681862.1:c.*1573G>A	ENSP00000505537.1:n.*1573G>A
ENST00000256578.7:c.1609G>A	ENSP00000256578.3:p.Ala537Thr
ENST00000342115.8:c.1366G>A	ENSP00000345498.4:p.Ala456Thr
ENST00000358729.8:c.1384G>A	ENSP00000351573.4:p.Ala462Thr
ENST00000369840.6:c.1520G>A
ENST00000393688.7:c.1252G>A	ENSP00000377292.3:p.Ala418Thr
ENST00000526301.5:n.1648G>A
ENST00000528454.5:c.1255G>A	ENSP00000437164.1:p.Ala419Thr
ENST00000528667.5:c.1609G>A	ENSP00000436541.1:p.Ala537Thr
ENST00000532851.1:n.157G>A
ENST00000533132.1:n.149G>A
NM_001257360.1:c.1609G>A	NP_001244289.1:p.Ala537Thr
NM_001257361.1:c.1255G>A	NP_001244290.1:p.Ala419Thr
NM_001308170.1:c.1384G>A	NP_001295099.1:p.Ala462Thr
NM_004037.7:c.1609G>A	NP_004028.3:p.Ala537Thr
NM_139156.3:c.1366G>A	NP_631895.1:p.Ala456Thr
NM_203404.1:c.1252G>A	NP_981949.1:p.Ala418Thr
XM_011541247.1:c.1822G>A	XP_011539549.1:p.Ala608Thr
XM_011541248.1:c.1782+187G>A	XP_011539550.1:n.1782+187G>A
XR_946607.1:n.1845G>A
XM_024446431.1:c.1384G>A	XP_024302199.1:p.Ala462Thr
XM_024446432.1:c.1430+187G>A	XP_024302200.1:n.1430+187G>A
XR_002956282.1:n.2020G>A
NM_001257360.2:c.1609G>A	NP_001244289.1:p.Ala537Thr
NM_001368809.2:c.1447G>A MANE Select	NP_001355738.1:p.Ala483Thr
NM_004037.9:c.1447G>A	NP_004028.4:p.Ala483Thr
NM_001257361.2:c.1255G>A	NP_001244290.1:p.Ala419Thr
NM_139156.4:c.1366G>A	NP_631895.1:p.Ala456Thr