Canonical Allele Identifier: CA968804382

Gene: SPRED1

Linked Data

• dbSNP Id: rs1895116116
• gnomAD v3: 15-38299754-C-T
• gnomAD v4: 15-38299754-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.38299754C>T , CM000677.2:g.38299754C>T	GRCh38
NC_000015.9:g.38591955C>T , CM000677.1:g.38591955C>T	GRCh37
NC_000015.8:g.36379247C>T	NCBI36
NG_008980.1:g.51904C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299084.9:c.207+207C>T MANE Select	ENSP00000299084.4:n.207+207C>T
ENST00000299084.8:c.207+207C>T	ENSP00000299084.4:n.207+207C>T
ENST00000561205.1:n.545+207C>T
ENST00000561317.1:c.144+207C>T	ENSP00000453680.1:n.144+207C>T
NM_152594.2:c.207+207C>T	NP_689807.1:n.207+207C>T
XM_005254202.2:c.243+207C>T	XP_005254259.1:n.243+207C>T
XM_005254203.3:c.-15-22487C>T	XP_005254260.1:n.-15-22487C>T
XM_011521288.1:c.144+207C>T	XP_011519590.1:n.144+207C>T
XM_011521289.1:c.144+207C>T	XP_011519591.1:n.144+207C>T
XM_011521290.1:c.144+207C>T	XP_011519592.1:n.144+207C>T
XM_005254202.3:c.243+207C>T	XP_005254259.1:n.243+207C>T
XM_011521289.3:c.144+207C>T	XP_011519591.1:n.144+207C>T
NM_152594.3:c.207+207C>T MANE Select	NP_689807.1:n.207+207C>T