Canonical Allele Identifier: CA215456

Gene: SPRED1

Linked Data

• ClinVar Variation Id: 41454
• ClinVar RCV Id: RCV000034342
• dbSNP Id: rs200338097
• ExAC: 15:38641774 A / T
• gnomAD v2: 15-38641774-A-T
• gnomAD v3: 15-38349573-A-T
• gnomAD v4: 15-38349573-A-T
• MyVariant Identifiers: chr15:g.38641774A>T (hg19) ; chr15:g.38349573A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.38349573A>T , CM000677.2:g.38349573A>T	GRCh38
NC_000015.9:g.38641774A>T , CM000677.1:g.38641774A>T	GRCh37
NC_000015.8:g.36429066A>T	NCBI36
NG_008980.1:g.101723A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000299084.9:c.684+50A>T MANE Select	ENSP00000299084.4:n.684+50A>T
ENST00000299084.8:c.684+50A>T	ENSP00000299084.4:n.684+50A>T
NM_152594.2:c.684+50A>T	NP_689807.1:n.684+50A>T
XM_005254202.2:c.720+50A>T	XP_005254259.1:n.720+50A>T
XM_005254203.3:c.462+50A>T	XP_005254260.1:n.462+50A>T
XM_011521288.1:c.621+50A>T	XP_011519590.1:n.621+50A>T
XM_011521289.1:c.621+50A>T	XP_011519591.1:n.621+50A>T
XM_011521290.1:c.621+50A>T	XP_011519592.1:n.621+50A>T
XM_005254202.3:c.720+50A>T	XP_005254259.1:n.720+50A>T
XM_011521289.3:c.621+50A>T	XP_011519591.1:n.621+50A>T
NM_152594.3:c.684+50A>T MANE Select	NP_689807.1:n.684+50A>T