Canonical Allele Identifier: CA7470145

Gene: SPRED1

Linked Data

• dbSNP Id: rs121434314
• ExAC: 15:38641683 C / G
• gnomAD v2: 15-38641683-C-G
• gnomAD v4: 15-38349482-C-G
• MyVariant Identifiers: chr15:g.38641683C>G (hg19) ; chr15:g.38349482C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.38349482C>G , CM000677.2:g.38349482C>G	GRCh38
NC_000015.9:g.38641683C>G , CM000677.1:g.38641683C>G	GRCh37
NC_000015.8:g.36428975C>G	NCBI36
NG_008980.1:g.101632C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000299084.9:c.643C>G MANE Select	ENSP00000299084.4:p.Gln215Glu
ENST00000299084.8:c.643C>G	ENSP00000299084.4:p.Gln215Glu
NM_152594.2:c.643C>G	NP_689807.1:p.Gln215Glu
XM_005254202.2:c.679C>G	XP_005254259.1:p.Gln227Glu
XM_005254203.3:c.421C>G	XP_005254260.1:p.Gln141Glu
XM_011521288.1:c.580C>G	XP_011519590.1:p.Gln194Glu
XM_011521289.1:c.580C>G	XP_011519591.1:p.Gln194Glu
XM_011521290.1:c.580C>G	XP_011519592.1:p.Gln194Glu
XM_005254202.3:c.679C>G	XP_005254259.1:p.Gln227Glu
XM_011521289.3:c.580C>G	XP_011519591.1:p.Gln194Glu
NM_152594.3:c.643C>G MANE Select	NP_689807.1:p.Gln215Glu