Canonical Allele Identifier: CA390154596

Gene: PIGH GPHN

Linked Data

• gnomAD v4: 14-67592638-G-T
• MyVariant Identifiers: chr14:g.68059355G>T (hg19) ; chr14:g.67592638G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.67592638G>T , CM000676.2:g.67592638G>T	GRCh38
NC_000014.8:g.68059355G>T , CM000676.1:g.68059355G>T	GRCh37
NC_000014.7:g.67129108G>T	NCBI36
NG_050632.2:g.12665C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000216452.9:c.471C>A (PIGH) MANE Select	ENSP00000216452.4:p.Phe157Leu
ENST00000216452.8:c.471C>A (PIGH)	ENSP00000216452.4:p.Phe157Leu
ENST00000558001.1:c.*214C>A (PIGH)	ENSP00000454061.1:n.*214C>A
ENST00000558198.5:c.*133+1105C>A (PIGH)	ENSP00000452924.1:n.*133+1105C>A
ENST00000558493.1:c.319+1105C>A (PIGH)
ENST00000558987.5:c.257C>A (PIGH)
ENST00000559118.1:n.139C>A (PIGH)
ENST00000559415.1:c.375C>A (PIGH)	ENSP00000452996.1:p.Phe125Leu
ENST00000559581.5:c.354C>A (PIGH)	ENSP00000453733.1:p.Phe118Leu
ENST00000560722.5:c.468C>A (PIGH)	ENSP00000453394.1:p.Phe156Leu
ENST00000561272.5:c.437C>A (PIGH)
ENST00000561303.5:c.*84C>A (PIGH)	ENSP00000452974.1:n.*84C>A
NM_004569.3:c.471C>A (PIGH)	NP_004560.1:p.Phe157Leu
XM_006720172.2:c.459C>A (PIGH)	XP_006720235.1:p.Phe153Leu
XM_011536838.1:c.471C>A (PIGH)	XP_011535140.1:p.Phe157Leu
XR_943477.1:n.583C>A (PIGH)
NM_001363694.1:c.468C>A (PIGH)	NP_001350623.1:p.Phe156Leu
NM_004569.4:c.471C>A (PIGH)	NP_004560.1:p.Phe157Leu
XM_011536838.3:c.471C>A (PIGH)	XP_011535140.1:p.Phe157Leu
XM_017020925.2:c.1313-142557G>T (GPHN)	XP_016876414.1:n.1313-142557G>T
XM_017021371.2:c.468C>A (PIGH)	XP_016876860.1:p.Phe156Leu
NM_004569.5:c.471C>A (PIGH) MANE Select	NP_004560.1:p.Phe157Leu