Canonical Allele Identifier: CA391933555

Gene: SPRED1

Linked Data

• gnomAD v4: 15-38351252-C-T
• MyVariant Identifiers: chr15:g.38643453C>T (hg19) ; chr15:g.38351252C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.38351252C>T , CM000677.2:g.38351252C>T	GRCh38
NC_000015.9:g.38643453C>T , CM000677.1:g.38643453C>T	GRCh37
NC_000015.8:g.36430745C>T	NCBI36
NG_008980.1:g.103402C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299084.9:c.923C>T MANE Select	ENSP00000299084.4:p.Ser308Phe
ENST00000299084.8:c.923C>T	ENSP00000299084.4:p.Ser308Phe
NM_152594.2:c.923C>T	NP_689807.1:p.Ser308Phe
XM_005254202.2:c.959C>T	XP_005254259.1:p.Ser320Phe
XM_005254203.3:c.701C>T	XP_005254260.1:p.Ser234Phe
XM_011521288.1:c.860C>T	XP_011519590.1:p.Ser287Phe
XM_011521289.1:c.860C>T	XP_011519591.1:p.Ser287Phe
XM_011521290.1:c.860C>T	XP_011519592.1:p.Ser287Phe
XM_005254202.3:c.959C>T	XP_005254259.1:p.Ser320Phe
XM_011521289.3:c.860C>T	XP_011519591.1:p.Ser287Phe
NM_152594.3:c.923C>T MANE Select	NP_689807.1:p.Ser308Phe