Canonical Allele Identifier: CA350179460

Gene: PGAP1

Linked Data

• MyVariant Identifiers: chr2:g.197777671T>A (hg19) ; chr2:g.196912947T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.196912947T>A , CM000664.2:g.196912947T>A	GRCh38
NC_000002.11:g.197777671T>A , CM000664.1:g.197777671T>A	GRCh37
NC_000002.10:g.197485916T>A	NCBI36
NG_046780.1:g.19049A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354764.9:c.584A>T MANE Select	ENSP00000346809.3:p.Asn195Ile
ENST00000354764.8:c.584A>T	ENSP00000346809.3:p.Asn195Ile
ENST00000374738.3:c.147+13523A>T	ENSP00000363870.3:n.147+13523A>T
ENST00000409188.5:c.458A>T	ENSP00000386802.1:p.Asn153Ile
ENST00000409475.5:c.584A>T	ENSP00000387028.1:p.Asn195Ile
ENST00000423035.5:c.*515A>T	ENSP00000415405.1:n.*515A>T
ENST00000470179.5:n.271+13523A>T
ENST00000485830.1:n.728A>T
NM_024989.3:c.584A>T	NP_079265.2:p.Asn195Ile
XM_011511878.1:c.584A>T	XP_011510180.1:p.Asn195Ile
XM_011511879.1:c.62A>T	XP_011510181.1:p.Asn21Ile
XM_011511880.1:c.584A>T	XP_011510182.1:p.Asn195Ile
NM_001321099.1:c.62A>T	NP_001308028.1:p.Asn21Ile
NM_001321100.1:c.-528A>T	NP_001308029.1:n.-528A>T
XM_017004992.1:c.62A>T	XP_016860481.1:p.Asn21Ile
XM_017004993.1:c.62A>T	XP_016860482.1:p.Asn21Ile
XM_017004994.1:c.-528A>T	XP_016860483.1:n.-528A>T
XM_024453156.1:c.-574A>T	XP_024308924.1:n.-574A>T
XR_001738959.1:n.963A>T
XR_001738960.1:n.963A>T
NM_024989.4:c.584A>T MANE Select	NP_079265.2:p.Asn195Ile
NM_001321099.2:c.62A>T	NP_001308028.1:p.Asn21Ile
NM_001321100.2:c.-528A>T	NP_001308029.1:n.-528A>T