Canonical Allele Identifier: CA712577142

Gene: SPRED1

Linked Data

• dbSNP Id: rs1228147902
• gnomAD v3: 15-38351797-C-T
• gnomAD v4: 15-38351797-C-T
• MyVariant Identifiers: chr15:g.38643998C>T (hg19) ; chr15:g.38351797C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.38351797C>T , CM000677.2:g.38351797C>T	GRCh38
NC_000015.9:g.38643998C>T , CM000677.1:g.38643998C>T	GRCh37
NC_000015.8:g.36431290C>T	NCBI36
NG_008980.1:g.103947C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299084.9:c.*133C>T MANE Select	ENSP00000299084.4:n.*133C>T
ENST00000299084.8:c.*133C>T	ENSP00000299084.4:n.*133C>T
NM_152594.2:c.*133C>T	NP_689807.1:n.*133C>T
XM_005254202.2:c.*133C>T	XP_005254259.1:n.*133C>T
XM_005254203.3:c.*133C>T	XP_005254260.1:n.*133C>T
XM_011521288.1:c.*133C>T	XP_011519590.1:n.*133C>T
XM_011521289.1:c.*133C>T	XP_011519591.1:n.*133C>T
XM_011521290.1:c.*133C>T	XP_011519592.1:n.*133C>T
XM_005254202.3:c.*133C>T	XP_005254259.1:n.*133C>T
XM_011521289.3:c.*133C>T	XP_011519591.1:n.*133C>T
NM_152594.3:c.*133C>T MANE Select	NP_689807.1:n.*133C>T