Canonical Allele Identifier: CA391933994

Gene: SPRED1

Linked Data

• ClinVar Variation Id: 2159075
• ClinVar RCV Id: RCV003085856
• MyVariant Identifiers: chr15:g.38643597C>A (hg19) ; chr15:g.38351396C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.38351396C>A , CM000677.2:g.38351396C>A	GRCh38
NC_000015.9:g.38643597C>A , CM000677.1:g.38643597C>A	GRCh37
NC_000015.8:g.36430889C>A	NCBI36
NG_008980.1:g.103546C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299084.9:c.1067C>A MANE Select	ENSP00000299084.4:p.Pro356Gln
ENST00000299084.8:c.1067C>A	ENSP00000299084.4:p.Pro356Gln
NM_152594.2:c.1067C>A	NP_689807.1:p.Pro356Gln
XM_005254202.2:c.1103C>A	XP_005254259.1:p.Pro368Gln
XM_005254203.3:c.845C>A	XP_005254260.1:p.Pro282Gln
XM_011521288.1:c.1004C>A	XP_011519590.1:p.Pro335Gln
XM_011521289.1:c.1004C>A	XP_011519591.1:p.Pro335Gln
XM_011521290.1:c.1004C>A	XP_011519592.1:p.Pro335Gln
XM_005254202.3:c.1103C>A	XP_005254259.1:p.Pro368Gln
XM_011521289.3:c.1004C>A	XP_011519591.1:p.Pro335Gln
NM_152594.3:c.1067C>A MANE Select	NP_689807.1:p.Pro356Gln