Canonical Allele Identifier: CA391931827

Gene: SPRED1

Linked Data

• gnomAD v4: 15-38253202-C-T
• MyVariant Identifiers: chr15:g.38545403C>T (hg19) ; chr15:g.38253202C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.38253202C>T , CM000677.2:g.38253202C>T	GRCh38
NC_000015.9:g.38545403C>T , CM000677.1:g.38545403C>T	GRCh37
NC_000015.8:g.36332695C>T	NCBI36
NG_008980.1:g.5352C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299084.9:c.17C>T MANE Select	ENSP00000299084.4:p.Ala6Val
ENST00000299084.8:c.17C>T	ENSP00000299084.4:p.Ala6Val
ENST00000561205.1:n.355C>T
ENST00000561317.1:c.-111C>T	ENSP00000453680.1:n.-111C>T
NM_152594.2:c.17C>T	NP_689807.1:p.Ala6Val
XM_005254202.2:c.17C>T	XP_005254259.1:p.Ala6Val
XM_005254203.3:c.-31C>T	XP_005254260.1:n.-31C>T
XM_005254202.3:c.17C>T	XP_005254259.1:p.Ala6Val
XR_001751484.1:n.87+365G>A
NM_152594.3:c.17C>T MANE Select	NP_689807.1:p.Ala6Val