Canonical Allele Identifier: CA490011919

Gene: SPRED1

Linked Data

• gnomAD v4: 15-38351206-C-T
• MyVariant Identifiers: chr15:g.38643407C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.38351206C>T , CM000677.2:g.38351206C>T	GRCh38
NC_000015.9:g.38643407C>T , CM000677.1:g.38643407C>T	GRCh37
NC_000015.8:g.36430699C>T	NCBI36
NG_008980.1:g.103356C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299084.9:c.877C>T MANE Select	ENSP00000299084.4:p.Leu293=
ENST00000299084.8:c.877C>T	ENSP00000299084.4:p.Leu293=
NM_152594.2:c.877C>T	NP_689807.1:p.Leu293=
XM_005254202.2:c.913C>T	XP_005254259.1:p.Leu305=
XM_005254203.3:c.655C>T	XP_005254260.1:p.Leu219=
XM_011521288.1:c.814C>T	XP_011519590.1:p.Leu272=
XM_011521289.1:c.814C>T	XP_011519591.1:p.Leu272=
XM_011521290.1:c.814C>T	XP_011519592.1:p.Leu272=
XM_005254202.3:c.913C>T	XP_005254259.1:p.Leu305=
XM_011521289.3:c.814C>T	XP_011519591.1:p.Leu272=
NM_152594.3:c.877C>T MANE Select	NP_689807.1:p.Leu293=