Canonical Allele Identifier: CA7470233

Gene: SPRED1

Linked Data

• dbSNP Id: rs746827242
• ExAC: 15:38643658 G / T
• gnomAD v2: 15-38643658-G-T
• gnomAD v4: 15-38351457-G-T
• MyVariant Identifiers: chr15:g.38643658G>T (hg19) ; chr15:g.38351457G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.38351457G>T , CM000677.2:g.38351457G>T	GRCh38
NC_000015.9:g.38643658G>T , CM000677.1:g.38643658G>T	GRCh37
NC_000015.8:g.36430950G>T	NCBI36
NG_008980.1:g.103607G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299084.9:c.1128G>T MANE Select	ENSP00000299084.4:p.Leu376Phe
ENST00000299084.8:c.1128G>T	ENSP00000299084.4:p.Leu376Phe
NM_152594.2:c.1128G>T	NP_689807.1:p.Leu376Phe
XM_005254202.2:c.1164G>T	XP_005254259.1:p.Leu388Phe
XM_005254203.3:c.906G>T	XP_005254260.1:p.Leu302Phe
XM_011521288.1:c.1065G>T	XP_011519590.1:p.Leu355Phe
XM_011521289.1:c.1065G>T	XP_011519591.1:p.Leu355Phe
XM_011521290.1:c.1065G>T	XP_011519592.1:p.Leu355Phe
XM_005254202.3:c.1164G>T	XP_005254259.1:p.Leu388Phe
XM_011521289.3:c.1065G>T	XP_011519591.1:p.Leu355Phe
NM_152594.3:c.1128G>T MANE Select	NP_689807.1:p.Leu376Phe