Canonical Allele Identifier: CA6883964

Gene: PUS1

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.131929723A>G , CM000674.2:g.131929723A>G	GRCh38
NC_000012.11:g.132414268A>G , CM000674.1:g.132414268A>G	GRCh37
NC_000012.10:g.130980221A>G	NCBI36
NG_013039.1:g.5524A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_025215.6:c.1A>G MANE Select	NP_079491.2:p.Met1Val
ENST00000376649.8:c.1A>G MANE Select	ENSP00000365837.3:p.Met1Val
NM_001002019.2:c.-10-184A>G	NP_001002019.1:n.-10-184A>G
NM_001002019.3:c.-10-184A>G	NP_001002019.1:n.-10-184A>G
NM_001002020.2:c.-10-184A>G	NP_001002020.1:n.-10-184A>G
NM_001002020.3:c.-10-184A>G	NP_001002020.1:n.-10-184A>G
NM_025215.5:c.1A>G	NP_079491.2:p.Met1Val
ENST00000322060.9:c.-10-184A>G	ENSP00000324726.5:n.-10-184A>G
ENST00000376649.7:c.1A>G	ENSP00000365837.3:p.Met1Val
ENST00000443358.6:c.-10-184A>G	ENSP00000392451.2:n.-10-184A>G
ENST00000456665.6:c.-10-184A>G	ENSP00000409705.2:n.-10-184A>G
ENST00000538037.5:c.-72-12A>G	ENSP00000440326.2:n.-72-12A>G
ENST00000542167.2:c.-517+211A>G	ENSP00000438948.1:n.-517+211A>G
ENST00000544213.5:c.1A>G	ENSP00000445819.1:p.Met1Val
ENST00000544662.1:n.102-184A>G
XM_011538769.1:c.1A>G	XP_011537071.1:p.Met1Val
XM_011538769.2:c.1A>G	XP_011537071.1:p.Met1Val
XR_001748872.1:n.456A>G
XR_944737.1:n.456A>G