Canonical Allele Identifier: CA7470240

Gene: SPRED1

Linked Data

• ClinVar Variation Id: 536694
• ClinVar RCV Id: RCV001485576 ; RCV002334146 ; RCV003330861
• dbSNP Id: rs749745659
• ExAC: 15:38643721 C / T
• gnomAD v2: 15-38643721-C-T
• gnomAD v3: 15-38351520-C-T
• gnomAD v4: 15-38351520-C-T
• MyVariant Identifiers: chr15:g.38643721C>T (hg19) ; chr15:g.38351520C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.38351520C>T , CM000677.2:g.38351520C>T	GRCh38
NC_000015.9:g.38643721C>T , CM000677.1:g.38643721C>T	GRCh37
NC_000015.8:g.36431013C>T	NCBI36
NG_008980.1:g.103670C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299084.9:c.1191C>T MANE Select	ENSP00000299084.4:p.Asp397=
ENST00000299084.8:c.1191C>T	ENSP00000299084.4:p.Asp397=
NM_152594.2:c.1191C>T	NP_689807.1:p.Asp397=
XM_005254202.2:c.1227C>T	XP_005254259.1:p.Asp409=
XM_005254203.3:c.969C>T	XP_005254260.1:p.Asp323=
XM_011521288.1:c.1128C>T	XP_011519590.1:p.Asp376=
XM_011521289.1:c.1128C>T	XP_011519591.1:p.Asp376=
XM_011521290.1:c.1128C>T	XP_011519592.1:p.Asp376=
XM_005254202.3:c.1227C>T	XP_005254259.1:p.Asp409=
XM_011521289.3:c.1128C>T	XP_011519591.1:p.Asp376=
NM_152594.3:c.1191C>T MANE Select	NP_689807.1:p.Asp397=