Canonical Allele Identifier: CA269293453

Gene: SPRED1

Linked Data

• ClinVar Variation Id: 1334309
• ClinVar RCV Id: RCV001813724 ; RCV002370333
• dbSNP Id: rs899712805
• gnomAD v2: 15-38643481-A-T
• gnomAD v3: 15-38351280-A-T
• gnomAD v4: 15-38351280-A-T
• MyVariant Identifiers: chr15:g.38643481A>T (hg19) ; chr15:g.38351280A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.38351280A>T , CM000677.2:g.38351280A>T	GRCh38
NC_000015.9:g.38643481A>T , CM000677.1:g.38643481A>T	GRCh37
NC_000015.8:g.36430773A>T	NCBI36
NG_008980.1:g.103430A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299084.9:c.951A>T MANE Select	ENSP00000299084.4:p.Ser317=
ENST00000299084.8:c.951A>T	ENSP00000299084.4:p.Ser317=
NM_152594.2:c.951A>T	NP_689807.1:p.Ser317=
XM_005254202.2:c.987A>T	XP_005254259.1:p.Ser329=
XM_005254203.3:c.729A>T	XP_005254260.1:p.Ser243=
XM_011521288.1:c.888A>T	XP_011519590.1:p.Ser296=
XM_011521289.1:c.888A>T	XP_011519591.1:p.Ser296=
XM_011521290.1:c.888A>T	XP_011519592.1:p.Ser296=
XM_005254202.3:c.987A>T	XP_005254259.1:p.Ser329=
XM_011521289.3:c.888A>T	XP_011519591.1:p.Ser296=
NM_152594.3:c.951A>T MANE Select	NP_689807.1:p.Ser317=