Canonical Allele Identifier: CA391933395

Gene: SPRED1

Linked Data

• dbSNP Id: rs1160876585
• gnomAD v2: 15-38643382-A-C
• MyVariant Identifiers: chr15:g.38643382A>C (hg19) ; chr15:g.38351181A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.38351181A>C , CM000677.2:g.38351181A>C	GRCh38
NC_000015.9:g.38643382A>C , CM000677.1:g.38643382A>C	GRCh37
NC_000015.8:g.36430674A>C	NCBI36
NG_008980.1:g.103331A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299084.9:c.852A>C MANE Select	ENSP00000299084.4:p.Lys284Asn
ENST00000299084.8:c.852A>C	ENSP00000299084.4:p.Lys284Asn
NM_152594.2:c.852A>C	NP_689807.1:p.Lys284Asn
XM_005254202.2:c.888A>C	XP_005254259.1:p.Lys296Asn
XM_005254203.3:c.630A>C	XP_005254260.1:p.Lys210Asn
XM_011521288.1:c.789A>C	XP_011519590.1:p.Lys263Asn
XM_011521289.1:c.789A>C	XP_011519591.1:p.Lys263Asn
XM_011521290.1:c.789A>C	XP_011519592.1:p.Lys263Asn
XM_005254202.3:c.888A>C	XP_005254259.1:p.Lys296Asn
XM_011521289.3:c.789A>C	XP_011519591.1:p.Lys263Asn
NM_152594.3:c.852A>C MANE Select	NP_689807.1:p.Lys284Asn