Canonical Allele Identifier: CA377127195

Gene: SGPL1 PCBD1

Linked Data

• MyVariant Identifiers: chr10:g.72643736T>A (hg19) ; chr10:g.70883979T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.70883979T>A , CM000672.2:g.70883979T>A	GRCh38
NC_000010.10:g.72643736T>A , CM000672.1:g.72643736T>A	GRCh37
NC_000010.9:g.72313742T>A	NCBI36
NG_008646.1:g.9806A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697988.1:c.571-9780T>A (SGPL1)	ENSP00000513492.1:n.571-9780T>A
ENST00000299299.4:c.286A>T (PCBD1) MANE Select	ENSP00000299299.3:p.Ile96Phe
ENST00000299299.3:c.286A>T (PCBD1)	ENSP00000299299.3:p.Ile96Phe
ENST00000493228.1:n.685A>T (PCBD1)
ENST00000493961.5:n.183+1173A>T (PCBD1)
NM_000281.3:c.286A>T (PCBD1)	NP_000272.1:p.Ile96Phe
NM_001289797.1:c.139A>T (PCBD1)	NP_001276726.1:p.Ile47Phe
XM_005269877.1:c.216+1173A>T (PCBD1)	XP_005269934.1:n.216+1173A>T
NM_001323004.1:c.216+1173A>T (PCBD1)	NP_001309933.1:n.216+1173A>T
NM_000281.4:c.286A>T (PCBD1) MANE Select	NP_000272.1:p.Ile96Phe
NM_001289797.2:c.139A>T (PCBD1)	NP_001276726.1:p.Ile47Phe
NM_001323004.2:c.216+1173A>T (PCBD1)	NP_001309933.1:n.216+1173A>T