Canonical Allele Identifier: CA617495202

Gene: SPRED1

Linked Data

• dbSNP Id: rs1478664050
• gnomAD v2: 15-38545435-T-C
• gnomAD v4: 15-38253234-T-C
• MyVariant Identifiers: chr15:g.38545435T>C (hg19) ; chr15:g.38253234T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.38253234T>C , CM000677.2:g.38253234T>C	GRCh38
NC_000015.9:g.38545435T>C , CM000677.1:g.38545435T>C	GRCh37
NC_000015.8:g.36332727T>C	NCBI36
NG_008980.1:g.5384T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299084.9:c.32+17T>C MANE Select	ENSP00000299084.4:n.32+17T>C
ENST00000299084.8:c.32+17T>C	ENSP00000299084.4:n.32+17T>C
ENST00000561205.1:n.370+17T>C
ENST00000561317.1:c.-96+17T>C	ENSP00000453680.1:n.-96+17T>C
NM_152594.2:c.32+17T>C	NP_689807.1:n.32+17T>C
XM_005254202.2:c.32+17T>C	XP_005254259.1:n.32+17T>C
XM_005254203.3:c.-16+17T>C	XP_005254260.1:n.-16+17T>C
XM_005254202.3:c.32+17T>C	XP_005254259.1:n.32+17T>C
XR_001751484.1:n.87+333A>G
NM_152594.3:c.32+17T>C MANE Select	NP_689807.1:n.32+17T>C