Canonical Allele Identifier: CA7237630
MyVariant.info:
Revel Score:
gnomAD v4:

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.67600203T>A , CM000676.2:g.67600203T>A GRCh38
NC_000014.8:g.68066920T>A , CM000676.1:g.68066920T>A GRCh37
NC_000014.7:g.67136673T>A NCBI36
NG_050632.2:g.5100A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000216452.9:c.1A>T (PIGH) MANE Select ENSP00000216452.4:p.Met1Leu
ENST00000216452.8:c.1A>T (PIGH) ENSP00000216452.4:p.Met1Leu
ENST00000558001.1:c.1A>T (PIGH) ENSP00000454061.1:p.Met1Leu
ENST00000558198.5:c.1A>T (PIGH) ENSP00000452924.1:p.Met1Leu
ENST00000559097.1:n.84A>T (PIGH)
ENST00000559415.1:c.1A>T (PIGH) ENSP00000452996.1:p.Met1Leu
ENST00000559581.5:c.1A>T (PIGH) ENSP00000453733.1:p.Met1Leu
ENST00000560722.5:c.1A>T (PIGH) ENSP00000453394.1:p.Met1Leu
ENST00000561303.5:c.1A>T (PIGH) ENSP00000452974.1:p.Met1Leu
NM_004569.3:c.1A>T (PIGH) NP_004560.1:p.Met1Leu
XM_006720172.2:c.-7A>T (PIGH) XP_006720235.1:n.-7A>T
XM_011536838.1:c.1A>T (PIGH) XP_011535140.1:p.Met1Leu
XR_943477.1:n.98A>T (PIGH)
NM_001363694.1:c.1A>T (PIGH) NP_001350623.1:p.Met1Leu
NM_004569.4:c.1A>T (PIGH) NP_004560.1:p.Met1Leu
XM_011536838.3:c.1A>T (PIGH) XP_011535140.1:p.Met1Leu
XM_017020925.2:c.1313-134992T>A (GPHN) XP_016876414.1:n.1313-134992T>A
XM_017021371.2:c.1A>T (PIGH) XP_016876860.1:p.Met1Leu
NM_004569.5:c.1A>T (PIGH) MANE Select NP_004560.1:p.Met1Leu