Canonical Allele Identifier: CA7470252

Gene: SPRED1

Linked Data

• ClinVar Variation Id: 1334214
• ClinVar RCV Id: RCV001813629 ; RCV003163948
• dbSNP Id: rs751260227
• ExAC: 15:38643756 C / T
• gnomAD v2: 15-38643756-C-T
• gnomAD v3: 15-38351555-C-T
• gnomAD v4: 15-38351555-C-T
• MyVariant Identifiers: chr15:g.38643756C>T (hg19) ; chr15:g.38351555C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.38351555C>T , CM000677.2:g.38351555C>T	GRCh38
NC_000015.9:g.38643756C>T , CM000677.1:g.38643756C>T	GRCh37
NC_000015.8:g.36431048C>T	NCBI36
NG_008980.1:g.103705C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299084.9:c.1226C>T MANE Select	ENSP00000299084.4:p.Ala409Val
ENST00000299084.8:c.1226C>T	ENSP00000299084.4:p.Ala409Val
NM_152594.2:c.1226C>T	NP_689807.1:p.Ala409Val
XM_005254202.2:c.1262C>T	XP_005254259.1:p.Ala421Val
XM_005254203.3:c.1004C>T	XP_005254260.1:p.Ala335Val
XM_011521288.1:c.1163C>T	XP_011519590.1:p.Ala388Val
XM_011521289.1:c.1163C>T	XP_011519591.1:p.Ala388Val
XM_011521290.1:c.1163C>T	XP_011519592.1:p.Ala388Val
XM_005254202.3:c.1262C>T	XP_005254259.1:p.Ala421Val
XM_011521289.3:c.1163C>T	XP_011519591.1:p.Ala388Val
NM_152594.3:c.1226C>T MANE Select	NP_689807.1:p.Ala409Val