Canonical Allele Identifier: CA391933860

Gene: SPRED1

Linked Data

• dbSNP Id: rs1388396030
• gnomAD v2: 15-38591603-T-C
• gnomAD v4: 15-38299402-T-C
• MyVariant Identifiers: chr15:g.38591603T>C (hg19) ; chr15:g.38299402T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.38299402T>C , CM000677.2:g.38299402T>C	GRCh38
NC_000015.9:g.38591603T>C , CM000677.1:g.38591603T>C	GRCh37
NC_000015.8:g.36378895T>C	NCBI36
NG_008980.1:g.51552T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299084.9:c.62T>C MANE Select	ENSP00000299084.4:p.Val21Ala
ENST00000299084.8:c.62T>C	ENSP00000299084.4:p.Val21Ala
ENST00000561205.1:n.400T>C
ENST00000561317.1:c.-2T>C	ENSP00000453680.1:n.-2T>C
NM_152594.2:c.62T>C	NP_689807.1:p.Val21Ala
XM_005254202.2:c.98T>C	XP_005254259.1:p.Val33Ala
XM_005254203.3:c.-15-22839T>C	XP_005254260.1:n.-15-22839T>C
XM_011521288.1:c.-2T>C	XP_011519590.1:n.-2T>C
XM_011521289.1:c.-2T>C	XP_011519591.1:n.-2T>C
XM_011521290.1:c.-2T>C	XP_011519592.1:n.-2T>C
XM_005254202.3:c.98T>C	XP_005254259.1:p.Val33Ala
XM_011521289.3:c.-2T>C	XP_011519591.1:n.-2T>C
NM_152594.3:c.62T>C MANE Select	NP_689807.1:p.Val21Ala