Canonical Allele Identifier: CA490012595

Gene: SPRED1

Linked Data

• gnomAD v4: 15-38351565-C-T
• COSMIC: COSM3500693
• MyVariant Identifiers: chr15:g.38643766C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.38351565C>T , CM000677.2:g.38351565C>T	GRCh38
NC_000015.9:g.38643766C>T , CM000677.1:g.38643766C>T	GRCh37
NC_000015.8:g.36431058C>T	NCBI36
NG_008980.1:g.103715C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299084.9:c.1236C>T MANE Select	ENSP00000299084.4:p.Phe412=
ENST00000299084.8:c.1236C>T	ENSP00000299084.4:p.Phe412=
NM_152594.2:c.1236C>T	NP_689807.1:p.Phe412=
XM_005254202.2:c.1272C>T	XP_005254259.1:p.Phe424=
XM_005254203.3:c.1014C>T	XP_005254260.1:p.Phe338=
XM_011521288.1:c.1173C>T	XP_011519590.1:p.Phe391=
XM_011521289.1:c.1173C>T	XP_011519591.1:p.Phe391=
XM_011521290.1:c.1173C>T	XP_011519592.1:p.Phe391=
XM_005254202.3:c.1272C>T	XP_005254259.1:p.Phe424=
XM_011521289.3:c.1173C>T	XP_011519591.1:p.Phe391=
NM_152594.3:c.1236C>T MANE Select	NP_689807.1:p.Phe412=