Canonical Allele Identifier: CA391932908

Gene: SPRED1

Linked Data

• gnomAD v4: 15-38349486-T-C
• MyVariant Identifiers: chr15:g.38641687T>C (hg19) ; chr15:g.38349486T>C (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000299084.9:c.647T>C MANE Select	ENSP00000299084.4:p.Ile216Thr
ENST00000299084.8:c.647T>C	ENSP00000299084.4:p.Ile216Thr
NM_152594.2:c.647T>C	NP_689807.1:p.Ile216Thr
XM_005254202.2:c.683T>C	XP_005254259.1:p.Ile228Thr
XM_005254203.3:c.425T>C	XP_005254260.1:p.Ile142Thr
XM_011521288.1:c.584T>C	XP_011519590.1:p.Ile195Thr
XM_011521289.1:c.584T>C	XP_011519591.1:p.Ile195Thr
XM_011521290.1:c.584T>C	XP_011519592.1:p.Ile195Thr
XM_005254202.3:c.683T>C	XP_005254259.1:p.Ile228Thr
XM_011521289.3:c.584T>C	XP_011519591.1:p.Ile195Thr
NM_152594.3:c.647T>C MANE Select	NP_689807.1:p.Ile216Thr