Canonical Allele Identifier: CA391934560

Gene: SPRED1

Linked Data

• ClinVar Variation Id: 2193581
• ClinVar RCV Id: RCV002612253
• dbSNP Id: rs1201851975
• gnomAD v2: 15-38643737-C-T
• gnomAD v4: 15-38351536-C-T
• MyVariant Identifiers: chr15:g.38643737C>T (hg19) ; chr15:g.38351536C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.38351536C>T , CM000677.2:g.38351536C>T	GRCh38
NC_000015.9:g.38643737C>T , CM000677.1:g.38643737C>T	GRCh37
NC_000015.8:g.36431029C>T	NCBI36
NG_008980.1:g.103686C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299084.9:c.1207C>T MANE Select	ENSP00000299084.4:p.Arg403Ter
ENST00000299084.8:c.1207C>T	ENSP00000299084.4:p.Arg403Ter
NM_152594.2:c.1207C>T	NP_689807.1:p.Arg403Ter
XM_005254202.2:c.1243C>T	XP_005254259.1:p.Arg415Ter
XM_005254203.3:c.985C>T	XP_005254260.1:p.Arg329Ter
XM_011521288.1:c.1144C>T	XP_011519590.1:p.Arg382Ter
XM_011521289.1:c.1144C>T	XP_011519591.1:p.Arg382Ter
XM_011521290.1:c.1144C>T	XP_011519592.1:p.Arg382Ter
XM_005254202.3:c.1243C>T	XP_005254259.1:p.Arg415Ter
XM_011521289.3:c.1144C>T	XP_011519591.1:p.Arg382Ter
NM_152594.3:c.1207C>T MANE Select	NP_689807.1:p.Arg403Ter