Canonical Allele Identifier: CA391933385

Gene: SPRED1

Linked Data

• gnomAD v4: 15-38351176-T-G
• MyVariant Identifiers: chr15:g.38643377T>G (hg19) ; chr15:g.38351176T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.38351176T>G , CM000677.2:g.38351176T>G	GRCh38
NC_000015.9:g.38643377T>G , CM000677.1:g.38643377T>G	GRCh37
NC_000015.8:g.36430669T>G	NCBI36
NG_008980.1:g.103326T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000299084.9:c.847T>G MANE Select	ENSP00000299084.4:p.Ser283Ala
ENST00000299084.8:c.847T>G	ENSP00000299084.4:p.Ser283Ala
NM_152594.2:c.847T>G	NP_689807.1:p.Ser283Ala
XM_005254202.2:c.883T>G	XP_005254259.1:p.Ser295Ala
XM_005254203.3:c.625T>G	XP_005254260.1:p.Ser209Ala
XM_011521288.1:c.784T>G	XP_011519590.1:p.Ser262Ala
XM_011521289.1:c.784T>G	XP_011519591.1:p.Ser262Ala
XM_011521290.1:c.784T>G	XP_011519592.1:p.Ser262Ala
XM_005254202.3:c.883T>G	XP_005254259.1:p.Ser295Ala
XM_011521289.3:c.784T>G	XP_011519591.1:p.Ser262Ala
NM_152594.3:c.847T>G MANE Select	NP_689807.1:p.Ser283Ala