Canonical Allele Identifier: CA391933403

Gene: SPRED1

Linked Data

• gnomAD v4: 15-38351185-G-C
• MyVariant Identifiers: chr15:g.38643386G>C (hg19) ; chr15:g.38351185G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.38351185G>C , CM000677.2:g.38351185G>C	GRCh38
NC_000015.9:g.38643386G>C , CM000677.1:g.38643386G>C	GRCh37
NC_000015.8:g.36430678G>C	NCBI36
NG_008980.1:g.103335G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299084.9:c.856G>C MANE Select	ENSP00000299084.4:p.Asp286His
ENST00000299084.8:c.856G>C	ENSP00000299084.4:p.Asp286His
NM_152594.2:c.856G>C	NP_689807.1:p.Asp286His
XM_005254202.2:c.892G>C	XP_005254259.1:p.Asp298His
XM_005254203.3:c.634G>C	XP_005254260.1:p.Asp212His
XM_011521288.1:c.793G>C	XP_011519590.1:p.Asp265His
XM_011521289.1:c.793G>C	XP_011519591.1:p.Asp265His
XM_011521290.1:c.793G>C	XP_011519592.1:p.Asp265His
XM_005254202.3:c.892G>C	XP_005254259.1:p.Asp298His
XM_011521289.3:c.793G>C	XP_011519591.1:p.Asp265His
NM_152594.3:c.856G>C MANE Select	NP_689807.1:p.Asp286His