Canonical Allele Identifier: CA391934276

Gene: SPRED1

Linked Data

• gnomAD v4: 15-38351465-G-T
• MyVariant Identifiers: chr15:g.38643666G>T (hg19) ; chr15:g.38351465G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.38351465G>T , CM000677.2:g.38351465G>T	GRCh38
NC_000015.9:g.38643666G>T , CM000677.1:g.38643666G>T	GRCh37
NC_000015.8:g.36430958G>T	NCBI36
NG_008980.1:g.103615G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299084.9:c.1136G>T MANE Select	ENSP00000299084.4:p.Cys379Phe
ENST00000299084.8:c.1136G>T	ENSP00000299084.4:p.Cys379Phe
NM_152594.2:c.1136G>T	NP_689807.1:p.Cys379Phe
XM_005254202.2:c.1172G>T	XP_005254259.1:p.Cys391Phe
XM_005254203.3:c.914G>T	XP_005254260.1:p.Cys305Phe
XM_011521288.1:c.1073G>T	XP_011519590.1:p.Cys358Phe
XM_011521289.1:c.1073G>T	XP_011519591.1:p.Cys358Phe
XM_011521290.1:c.1073G>T	XP_011519592.1:p.Cys358Phe
XM_005254202.3:c.1172G>T	XP_005254259.1:p.Cys391Phe
XM_011521289.3:c.1073G>T	XP_011519591.1:p.Cys358Phe
NM_152594.3:c.1136G>T MANE Select	NP_689807.1:p.Cys379Phe