Canonical Allele Identifier: CA391933623

Gene: SPRED1

Linked Data

• gnomAD v4: 15-38351286-A-C
• MyVariant Identifiers: chr15:g.38643487A>C (hg19) ; chr15:g.38351286A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.38351286A>C , CM000677.2:g.38351286A>C	GRCh38
NC_000015.9:g.38643487A>C , CM000677.1:g.38643487A>C	GRCh37
NC_000015.8:g.36430779A>C	NCBI36
NG_008980.1:g.103436A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000299084.9:c.957A>C MANE Select	ENSP00000299084.4:p.Lys319Asn
ENST00000299084.8:c.957A>C	ENSP00000299084.4:p.Lys319Asn
NM_152594.2:c.957A>C	NP_689807.1:p.Lys319Asn
XM_005254202.2:c.993A>C	XP_005254259.1:p.Lys331Asn
XM_005254203.3:c.735A>C	XP_005254260.1:p.Lys245Asn
XM_011521288.1:c.894A>C	XP_011519590.1:p.Lys298Asn
XM_011521289.1:c.894A>C	XP_011519591.1:p.Lys298Asn
XM_011521290.1:c.894A>C	XP_011519592.1:p.Lys298Asn
XM_005254202.3:c.993A>C	XP_005254259.1:p.Lys331Asn
XM_011521289.3:c.894A>C	XP_011519591.1:p.Lys298Asn
NM_152594.3:c.957A>C MANE Select	NP_689807.1:p.Lys319Asn