Canonical Allele Identifier: CA7470202

Gene: SPRED1

Linked Data

• dbSNP Id: rs776909752
• ExAC: 15:38643436 A / G
• gnomAD v2: 15-38643436-A-G
• gnomAD v3: 15-38351235-A-G
• gnomAD v4: 15-38351235-A-G
• MyVariant Identifiers: chr15:g.38643436A>G (hg19) ; chr15:g.38351235A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.38351235A>G , CM000677.2:g.38351235A>G	GRCh38
NC_000015.9:g.38643436A>G , CM000677.1:g.38643436A>G	GRCh37
NC_000015.8:g.36430728A>G	NCBI36
NG_008980.1:g.103385A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299084.9:c.906A>G MANE Select	ENSP00000299084.4:p.Leu302=
ENST00000299084.8:c.906A>G	ENSP00000299084.4:p.Leu302=
NM_152594.2:c.906A>G	NP_689807.1:p.Leu302=
XM_005254202.2:c.942A>G	XP_005254259.1:p.Leu314=
XM_005254203.3:c.684A>G	XP_005254260.1:p.Leu228=
XM_011521288.1:c.843A>G	XP_011519590.1:p.Leu281=
XM_011521289.1:c.843A>G	XP_011519591.1:p.Leu281=
XM_011521290.1:c.843A>G	XP_011519592.1:p.Leu281=
XM_005254202.3:c.942A>G	XP_005254259.1:p.Leu314=
XM_011521289.3:c.843A>G	XP_011519591.1:p.Leu281=
NM_152594.3:c.906A>G MANE Select	NP_689807.1:p.Leu302=