Canonical Allele Identifier: CA9372238

Gene: HPN

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.35049505C>T , CM000681.2:g.35049505C>T	GRCh38
NC_000019.9:g.35540409C>T , CM000681.1:g.35540409C>T	GRCh37
NC_000019.8:g.40232249C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_001384133.1:c.149C>T MANE Select	NP_001371062.1:p.Pro50Leu
ENST00000672452.2:c.149C>T MANE Select	ENSP00000500664.1:p.Pro50Leu
NM_001375441.1:c.149C>T	NP_001362370.1:p.Pro50Leu
NM_001375441.3:c.149C>T	NP_001362370.1:p.Pro50Leu
NM_002151.2:c.149C>T	NP_002142.1:p.Pro50Leu
NM_002151.3:c.149C>T	NP_002142.1:p.Pro50Leu
NM_002151.5:c.149C>T	NP_002142.1:p.Pro50Leu
NM_182983.2:c.149C>T	NP_892028.1:p.Pro50Leu
NM_182983.3:c.149C>T	NP_892028.1:p.Pro50Leu
NM_182983.5:c.149C>T	NP_892028.1:p.Pro50Leu
ENST00000262626.6:c.149C>T	ENSP00000262626.2:p.Pro50Leu
ENST00000392226.5:c.149C>T	ENSP00000376060.1:p.Pro50Leu
ENST00000541345.6:n.152C>T
ENST00000593305.1:n.190C>T
ENST00000596662.5:n.235C>T
ENST00000597419.1:c.16+6983C>T	ENSP00000470327.1:n.16+6983C>T
ENST00000599363.5:n.176+6983C>T
ENST00000600390.1:c.149C>T	ENSP00000472310.1:p.Pro50Leu
ENST00000673426.1:c.149C>T	ENSP00000500909.1:p.Pro50Leu
XM_005258838.3:c.149C>T	XP_005258895.2:p.Pro50Leu
XM_005258838.4:c.149C>T	XP_005258895.2:p.Pro50Leu
XM_006723181.2:c.149C>T	XP_006723244.2:p.Pro50Leu
XM_011526891.1:c.-12C>T	XP_011525193.1:n.-12C>T
XM_017026731.1:c.149C>T	XP_016882220.1:p.Pro50Leu
XM_017026732.1:c.-12C>T	XP_016882221.1:n.-12C>T
XR_935935.1:n.517+3521G>A