Canonical Allele Identifier: CA391932910

Gene: SPRED1

Linked Data

• MyVariant Identifiers: chr15:g.38641687T>A (hg19) ; chr15:g.38349486T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.38349486T>A , CM000677.2:g.38349486T>A	GRCh38
NC_000015.9:g.38641687T>A , CM000677.1:g.38641687T>A	GRCh37
NC_000015.8:g.36428979T>A	NCBI36
NG_008980.1:g.101636T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000299084.9:c.647T>A MANE Select	ENSP00000299084.4:p.Ile216Lys
ENST00000299084.8:c.647T>A	ENSP00000299084.4:p.Ile216Lys
NM_152594.2:c.647T>A	NP_689807.1:p.Ile216Lys
XM_005254202.2:c.683T>A	XP_005254259.1:p.Ile228Lys
XM_005254203.3:c.425T>A	XP_005254260.1:p.Ile142Lys
XM_011521288.1:c.584T>A	XP_011519590.1:p.Ile195Lys
XM_011521289.1:c.584T>A	XP_011519591.1:p.Ile195Lys
XM_011521290.1:c.584T>A	XP_011519592.1:p.Ile195Lys
XM_005254202.3:c.683T>A	XP_005254259.1:p.Ile228Lys
XM_011521289.3:c.584T>A	XP_011519591.1:p.Ile195Lys
NM_152594.3:c.647T>A MANE Select	NP_689807.1:p.Ile216Lys