Canonical Allele Identifier: CA269293464

Gene: SPRED1

Linked Data

• ClinVar Variation Id: 2196085
• ClinVar RCV Id: RCV002650990 ; RCV003294574
• dbSNP Id: rs934682906
• gnomAD v2: 15-38643775-A-G
• gnomAD v3: 15-38351574-A-G
• gnomAD v4: 15-38351574-A-G
• MyVariant Identifiers: chr15:g.38643775A>G (hg19) ; chr15:g.38351574A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.38351574A>G , CM000677.2:g.38351574A>G	GRCh38
NC_000015.9:g.38643775A>G , CM000677.1:g.38643775A>G	GRCh37
NC_000015.8:g.36431067A>G	NCBI36
NG_008980.1:g.103724A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000299084.9:c.1245A>G MANE Select	ENSP00000299084.4:p.Pro415=
ENST00000299084.8:c.1245A>G	ENSP00000299084.4:p.Pro415=
NM_152594.2:c.1245A>G	NP_689807.1:p.Pro415=
XM_005254202.2:c.1281A>G	XP_005254259.1:p.Pro427=
XM_005254203.3:c.1023A>G	XP_005254260.1:p.Pro341=
XM_011521288.1:c.1182A>G	XP_011519590.1:p.Pro394=
XM_011521289.1:c.1182A>G	XP_011519591.1:p.Pro394=
XM_011521290.1:c.1182A>G	XP_011519592.1:p.Pro394=
XM_005254202.3:c.1281A>G	XP_005254259.1:p.Pro427=
XM_011521289.3:c.1182A>G	XP_011519591.1:p.Pro394=
NM_152594.3:c.1245A>G MANE Select	NP_689807.1:p.Pro415=