Canonical Allele Identifier: CA8638289

Gene: PHB1

Linked Data

• dbSNP Id: rs759272172
• ExAC: 17:47486517 G / A
• gnomAD v2: 17-47486517-G-A
• gnomAD v4: 17-49409155-G-A
• COSMIC: COSM980786
• MyVariant Identifiers: chr17:g.47486517G>A (hg19) ; chr17:g.49409155G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.49409155G>A , CM000679.2:g.49409155G>A	GRCh38
NC_000017.10:g.47486517G>A , CM000679.1:g.47486517G>A	GRCh37
NC_000017.9:g.44841516G>A	NCBI36
NG_023046.1:g.10726C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696365.1:c.397C>T	ENSP00000512581.1:p.Arg133Cys
ENST00000300408.8:c.397C>T MANE Select	ENSP00000300408.3:p.Arg133Cys
ENST00000419140.7:c.397C>T	ENSP00000393320.3:p.Arg133Cys
ENST00000434917.3:n.488C>T
ENST00000446735.6:c.235C>T	ENSP00000407828.2:p.Arg79Cys
ENST00000504124.6:c.397C>T	ENSP00000426433.3:p.Arg133Cys
ENST00000508009.6:n.488C>T
ENST00000511832.6:c.397C>T	ENSP00000425035.2:p.Arg133Cys
ENST00000512041.7:c.397C>T	ENSP00000422182.3:p.Arg133Cys
ENST00000614445.5:c.397C>T	ENSP00000479488.1:p.Arg133Cys
ENST00000617874.5:c.397C>T	ENSP00000484113.1:p.Arg133Cys
ENST00000300408.7:c.397C>T	ENSP00000300408.3:p.Arg133Cys
ENST00000393345.8:n.448C>T
ENST00000419140.6:c.397C>T	ENSP00000393320.2:p.Arg133Cys
ENST00000446735.5:c.397C>T	ENSP00000407828.1:p.Arg133Cys
ENST00000504124.5:c.397C>T	ENSP00000426433.2:p.Arg133Cys
ENST00000506273.1:n.352C>T
ENST00000508009.5:n.224C>T
ENST00000511832.5:c.397C>T	ENSP00000425035.1:p.Arg133Cys
ENST00000512041.6:c.397C>T	ENSP00000422182.2:p.Arg133Cys
ENST00000614445.4:c.397C>T	ENSP00000479488.1:p.Arg133Cys
ENST00000617874.4:c.397C>T	ENSP00000484113.1:p.Arg133Cys
NM_001281496.1:c.397C>T	NP_001268425.1:p.Arg133Cys
NM_001281497.1:c.397C>T	NP_001268426.1:p.Arg133Cys
NM_001281715.1:c.397C>T	NP_001268644.1:p.Arg133Cys
NM_002634.3:c.397C>T	NP_002625.1:p.Arg133Cys
XM_017024763.1:c.397C>T	XP_016880252.1:p.Arg133Cys
NM_002634.4:c.397C>T MANE Select	NP_002625.1:p.Arg133Cys
NM_001281496.2:c.397C>T	NP_001268425.1:p.Arg133Cys
NM_001281497.2:c.397C>T	NP_001268426.1:p.Arg133Cys
NM_001281715.2:c.397C>T	NP_001268644.1:p.Arg133Cys