Canonical Allele Identifier: CA10641684

Gene: SPRED1

Linked Data

• ClinVar Variation Id: 315755
• ClinVar RCV Id: RCV000293189
• dbSNP Id: rs561525888
• gnomAD v2: 15-38645612-A-C
• gnomAD v3: 15-38353411-A-C
• gnomAD v4: 15-38353411-A-C
• MyVariant Identifiers: chr15:g.38645612A>C (hg19) ; chr15:g.38353411A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.38353411A>C , CM000677.2:g.38353411A>C	GRCh38
NC_000015.9:g.38645612A>C , CM000677.1:g.38645612A>C	GRCh37
NC_000015.8:g.36432904A>C	NCBI36
NG_008980.1:g.105561A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000299084.9:c.*1747A>C MANE Select	ENSP00000299084.4:n.*1747A>C
ENST00000299084.8:c.*1747A>C	ENSP00000299084.4:n.*1747A>C
NM_152594.2:c.*1747A>C	NP_689807.1:n.*1747A>C
XM_005254202.2:c.*1747A>C	XP_005254259.1:n.*1747A>C
XM_005254203.3:c.*1747A>C	XP_005254260.1:n.*1747A>C
XM_011521288.1:c.*1747A>C	XP_011519590.1:n.*1747A>C
XM_011521289.1:c.*1747A>C	XP_011519591.1:n.*1747A>C
XM_011521290.1:c.*1747A>C	XP_011519592.1:n.*1747A>C
XM_005254202.3:c.*1747A>C	XP_005254259.1:n.*1747A>C
XM_011521289.3:c.*1747A>C	XP_011519591.1:n.*1747A>C
NM_152594.3:c.*1747A>C MANE Select	NP_689807.1:n.*1747A>C