Canonical Allele Identifier: CA391933508

Gene: SPRED1

Linked Data

• ClinVar Variation Id: 1998564
• ClinVar RCV Id: RCV002810546
• MyVariant Identifiers: chr15:g.38643432A>C (hg19) ; chr15:g.38351231A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.38351231A>C , CM000677.2:g.38351231A>C	GRCh38
NC_000015.9:g.38643432A>C , CM000677.1:g.38643432A>C	GRCh37
NC_000015.8:g.36430724A>C	NCBI36
NG_008980.1:g.103381A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299084.9:c.902A>C MANE Select	ENSP00000299084.4:p.Lys301Thr
ENST00000299084.8:c.902A>C	ENSP00000299084.4:p.Lys301Thr
NM_152594.2:c.902A>C	NP_689807.1:p.Lys301Thr
XM_005254202.2:c.938A>C	XP_005254259.1:p.Lys313Thr
XM_005254203.3:c.680A>C	XP_005254260.1:p.Lys227Thr
XM_011521288.1:c.839A>C	XP_011519590.1:p.Lys280Thr
XM_011521289.1:c.839A>C	XP_011519591.1:p.Lys280Thr
XM_011521290.1:c.839A>C	XP_011519592.1:p.Lys280Thr
XM_005254202.3:c.938A>C	XP_005254259.1:p.Lys313Thr
XM_011521289.3:c.839A>C	XP_011519591.1:p.Lys280Thr
NM_152594.3:c.902A>C MANE Select	NP_689807.1:p.Lys301Thr