Canonical Allele Identifier: CA391931794

Gene: SPRED1

Linked Data

• gnomAD v4: 15-38253189-A-C
• MyVariant Identifiers: chr15:g.38545390A>C (hg19) ; chr15:g.38253189A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.38253189A>C , CM000677.2:g.38253189A>C	GRCh38
NC_000015.9:g.38545390A>C , CM000677.1:g.38545390A>C	GRCh37
NC_000015.8:g.36332682A>C	NCBI36
NG_008980.1:g.5339A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299084.9:c.4A>C MANE Select	ENSP00000299084.4:p.Ser2Arg
ENST00000299084.8:c.4A>C	ENSP00000299084.4:p.Ser2Arg
ENST00000561205.1:n.342A>C
ENST00000561317.1:c.-124A>C	ENSP00000453680.1:n.-124A>C
NM_152594.2:c.4A>C	NP_689807.1:p.Ser2Arg
XM_005254202.2:c.4A>C	XP_005254259.1:p.Ser2Arg
XM_005254203.3:c.-44A>C	XP_005254260.1:n.-44A>C
XM_005254202.3:c.4A>C	XP_005254259.1:p.Ser2Arg
XR_001751484.1:n.87+378T>G
NM_152594.3:c.4A>C MANE Select	NP_689807.1:p.Ser2Arg