Canonical Allele Identifier: CA968807472

Gene: SPRED1

Linked Data

• dbSNP Id: rs1894022087
• gnomAD v3: 15-38253290-C-T
• gnomAD v4: 15-38253290-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.38253290C>T , CM000677.2:g.38253290C>T	GRCh38
NC_000015.9:g.38545491C>T , CM000677.1:g.38545491C>T	GRCh37
NC_000015.8:g.36332783C>T	NCBI36
NG_008980.1:g.5440C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299084.9:c.32+73C>T MANE Select	ENSP00000299084.4:n.32+73C>T
ENST00000299084.8:c.32+73C>T	ENSP00000299084.4:n.32+73C>T
ENST00000561205.1:n.370+73C>T
ENST00000561317.1:c.-96+73C>T	ENSP00000453680.1:n.-96+73C>T
NM_152594.2:c.32+73C>T	NP_689807.1:n.32+73C>T
XM_005254202.2:c.32+73C>T	XP_005254259.1:n.32+73C>T
XM_005254203.3:c.-16+73C>T	XP_005254260.1:n.-16+73C>T
XM_005254202.3:c.32+73C>T	XP_005254259.1:n.32+73C>T
XR_001751484.1:n.87+277G>A
NM_152594.3:c.32+73C>T MANE Select	NP_689807.1:n.32+73C>T