Canonical Allele Identifier: CA968819727

Gene: SPRED1

Linked Data

• dbSNP Id: rs1888622365
• gnomAD v3: 15-38356406-T-C
• gnomAD v4: 15-38356406-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.38356406T>C , CM000677.2:g.38356406T>C	GRCh38
NC_000015.9:g.38648607T>C , CM000677.1:g.38648607T>C	GRCh37
NC_000015.8:g.36435899T>C	NCBI36
NG_008980.1:g.108556T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000299084.9:c.*4742T>C MANE Select	ENSP00000299084.4:n.*4742T>C
ENST00000299084.8:c.*4742T>C	ENSP00000299084.4:n.*4742T>C
NM_152594.2:c.*4742T>C	NP_689807.1:n.*4742T>C
XM_005254202.2:c.*4742T>C	XP_005254259.1:n.*4742T>C
XM_005254203.3:c.*4742T>C	XP_005254260.1:n.*4742T>C
XM_011521288.1:c.*4742T>C	XP_011519590.1:n.*4742T>C
XM_011521289.1:c.*4742T>C	XP_011519591.1:n.*4742T>C
XM_011521290.1:c.*4742T>C	XP_011519592.1:n.*4742T>C
XM_005254202.3:c.*4742T>C	XP_005254259.1:n.*4742T>C
XM_011521289.3:c.*4742T>C	XP_011519591.1:n.*4742T>C
NM_152594.3:c.*4742T>C MANE Select	NP_689807.1:n.*4742T>C