Canonical Allele Identifier: CA391933009

Gene: SPRED1

Linked Data

• dbSNP Id: rs1888471290
• gnomAD v4: 15-38351015-T-C
• COSMIC: COSM1227425
• MyVariant Identifiers: chr15:g.38643216T>C (hg19) ; chr15:g.38351015T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.38351015T>C , CM000677.2:g.38351015T>C	GRCh38
NC_000015.9:g.38643216T>C , CM000677.1:g.38643216T>C	GRCh37
NC_000015.8:g.36430508T>C	NCBI36
NG_008980.1:g.103165T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000299084.9:c.686T>C MANE Select	ENSP00000299084.4:p.Val229Ala
ENST00000299084.8:c.686T>C	ENSP00000299084.4:p.Val229Ala
NM_152594.2:c.686T>C	NP_689807.1:p.Val229Ala
XM_005254202.2:c.722T>C	XP_005254259.1:p.Val241Ala
XM_005254203.3:c.464T>C	XP_005254260.1:p.Val155Ala
XM_011521288.1:c.623T>C	XP_011519590.1:p.Val208Ala
XM_011521289.1:c.623T>C	XP_011519591.1:p.Val208Ala
XM_011521290.1:c.623T>C	XP_011519592.1:p.Val208Ala
XM_005254202.3:c.722T>C	XP_005254259.1:p.Val241Ala
XM_011521289.3:c.623T>C	XP_011519591.1:p.Val208Ala
NM_152594.3:c.686T>C MANE Select	NP_689807.1:p.Val229Ala