Canonical Allele Identifier: CA7469948

Gene: SPRED1

Linked Data

• dbSNP Id: rs779189071
• ExAC: 15:38545414 A / T
• gnomAD v2: 15-38545414-A-T
• gnomAD v4: 15-38253213-A-T
• MyVariant Identifiers: chr15:g.38545414A>T (hg19) ; chr15:g.38253213A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.38253213A>T , CM000677.2:g.38253213A>T	GRCh38
NC_000015.9:g.38545414A>T , CM000677.1:g.38545414A>T	GRCh37
NC_000015.8:g.36332706A>T	NCBI36
NG_008980.1:g.5363A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299084.9:c.28A>T MANE Select	ENSP00000299084.4:p.Asn10Tyr
ENST00000299084.8:c.28A>T	ENSP00000299084.4:p.Asn10Tyr
ENST00000561205.1:n.366A>T
ENST00000561317.1:c.-100A>T	ENSP00000453680.1:n.-100A>T
NM_152594.2:c.28A>T	NP_689807.1:p.Asn10Tyr
XM_005254202.2:c.28A>T	XP_005254259.1:p.Asn10Tyr
XM_005254203.3:c.-20A>T	XP_005254260.1:n.-20A>T
XM_005254202.3:c.28A>T	XP_005254259.1:p.Asn10Tyr
XR_001751484.1:n.87+354T>A
NM_152594.3:c.28A>T MANE Select	NP_689807.1:p.Asn10Tyr