Canonical Allele Identifier: CA269282642

Gene: SPRED1

Linked Data

• dbSNP Id: rs937240262
• gnomAD v4: 15-38253065-C-G
• MyVariant Identifiers: chr15:g.38545266C>G (hg19) ; chr15:g.38253065C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.38253065C>G , CM000677.2:g.38253065C>G	GRCh38
NC_000015.9:g.38545266C>G , CM000677.1:g.38545266C>G	GRCh37
NC_000015.8:g.36332558C>G	NCBI36
NG_008980.1:g.5215C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299084.9:c.-121C>G MANE Select	ENSP00000299084.4:n.-121C>G
ENST00000299084.8:c.-121C>G	ENSP00000299084.4:n.-121C>G
ENST00000561205.1:n.218C>G
NM_152594.2:c.-121C>G	NP_689807.1:n.-121C>G
XM_005254202.2:c.-121C>G	XP_005254259.1:n.-121C>G
XM_005254203.3:c.-168C>G	XP_005254260.1:n.-168C>G
XM_005254202.3:c.-121C>G	XP_005254259.1:n.-121C>G
XR_001751484.1:n.87+502G>C
NM_152594.3:c.-121C>G MANE Select	NP_689807.1:n.-121C>G