Canonical Allele Identifier: CA490012639

Gene: SPRED1

Linked Data

• ClinVar Variation Id: 1114729
• ClinVar RCV Id: RCV001442509
• dbSNP Id: rs1313604330
• gnomAD v2: 15-38643808-C-T
• gnomAD v3: 15-38351607-C-T
• gnomAD v4: 15-38351607-C-T
• MyVariant Identifiers: chr15:g.38643808C>T (hg19) ; chr15:g.38351607C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.38351607C>T , CM000677.2:g.38351607C>T	GRCh38
NC_000015.9:g.38643808C>T , CM000677.1:g.38643808C>T	GRCh37
NC_000015.8:g.36431100C>T	NCBI36
NG_008980.1:g.103757C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299084.9:c.1278C>T MANE Select	ENSP00000299084.4:p.Cys426=
ENST00000299084.8:c.1278C>T	ENSP00000299084.4:p.Cys426=
NM_152594.2:c.1278C>T	NP_689807.1:p.Cys426=
XM_005254202.2:c.1314C>T	XP_005254259.1:p.Cys438=
XM_005254203.3:c.1056C>T	XP_005254260.1:p.Cys352=
XM_011521288.1:c.1215C>T	XP_011519590.1:p.Cys405=
XM_011521289.1:c.1215C>T	XP_011519591.1:p.Cys405=
XM_011521290.1:c.1215C>T	XP_011519592.1:p.Cys405=
XM_005254202.3:c.1314C>T	XP_005254259.1:p.Cys438=
XM_011521289.3:c.1215C>T	XP_011519591.1:p.Cys405=
NM_152594.3:c.1278C>T MANE Select	NP_689807.1:p.Cys426=