Canonical Allele Identifier: CA712588241

Gene: SPRED1

Linked Data

• dbSNP Id: rs1382577449
• gnomAD v3: 15-38253063-G-A
• gnomAD v4: 15-38253063-G-A
• MyVariant Identifiers: chr15:g.38545264G>A (hg19) ; chr15:g.38253063G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.38253063G>A , CM000677.2:g.38253063G>A	GRCh38
NC_000015.9:g.38545264G>A , CM000677.1:g.38545264G>A	GRCh37
NC_000015.8:g.36332556G>A	NCBI36
NG_008980.1:g.5213G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000299084.9:c.-123G>A MANE Select	ENSP00000299084.4:n.-123G>A
ENST00000299084.8:c.-123G>A	ENSP00000299084.4:n.-123G>A
ENST00000561205.1:n.216G>A
NM_152594.2:c.-123G>A	NP_689807.1:n.-123G>A
XM_005254202.2:c.-123G>A	XP_005254259.1:n.-123G>A
XM_005254203.3:c.-170G>A	XP_005254260.1:n.-170G>A
XM_005254202.3:c.-123G>A	XP_005254259.1:n.-123G>A
XR_001751484.1:n.87+504C>T
NM_152594.3:c.-123G>A MANE Select	NP_689807.1:n.-123G>A