Canonical Allele Identifier: CA2627715195

Gene: SPRED1

Linked Data

• gnomAD v4: 15-38299640-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.38299640G>T , CM000677.2:g.38299640G>T	GRCh38
NC_000015.9:g.38591841G>T , CM000677.1:g.38591841G>T	GRCh37
NC_000015.8:g.36379133G>T	NCBI36
NG_008980.1:g.51790G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299084.9:c.207+93G>T MANE Select	ENSP00000299084.4:n.207+93G>T
ENST00000299084.8:c.207+93G>T	ENSP00000299084.4:n.207+93G>T
ENST00000561205.1:n.545+93G>T
ENST00000561317.1:c.144+93G>T	ENSP00000453680.1:n.144+93G>T
NM_152594.2:c.207+93G>T	NP_689807.1:n.207+93G>T
XM_005254202.2:c.243+93G>T	XP_005254259.1:n.243+93G>T
XM_005254203.3:c.-15-22601G>T	XP_005254260.1:n.-15-22601G>T
XM_011521288.1:c.144+93G>T	XP_011519590.1:n.144+93G>T
XM_011521289.1:c.144+93G>T	XP_011519591.1:n.144+93G>T
XM_011521290.1:c.144+93G>T	XP_011519592.1:n.144+93G>T
XM_005254202.3:c.243+93G>T	XP_005254259.1:n.243+93G>T
XM_011521289.3:c.144+93G>T	XP_011519591.1:n.144+93G>T
NM_152594.3:c.207+93G>T MANE Select	NP_689807.1:n.207+93G>T