Canonical Allele Identifier: CA391933755

Gene: SPRED1

Linked Data

• gnomAD v4: 15-38351338-T-A
• MyVariant Identifiers: chr15:g.38643539T>A (hg19) ; chr15:g.38351338T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.38351338T>A , CM000677.2:g.38351338T>A	GRCh38
NC_000015.9:g.38643539T>A , CM000677.1:g.38643539T>A	GRCh37
NC_000015.8:g.36430831T>A	NCBI36
NG_008980.1:g.103488T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299084.9:c.1009T>A MANE Select	ENSP00000299084.4:p.Tyr337Asn
ENST00000299084.8:c.1009T>A	ENSP00000299084.4:p.Tyr337Asn
NM_152594.2:c.1009T>A	NP_689807.1:p.Tyr337Asn
XM_005254202.2:c.1045T>A	XP_005254259.1:p.Tyr349Asn
XM_005254203.3:c.787T>A	XP_005254260.1:p.Tyr263Asn
XM_011521288.1:c.946T>A	XP_011519590.1:p.Tyr316Asn
XM_011521289.1:c.946T>A	XP_011519591.1:p.Tyr316Asn
XM_011521290.1:c.946T>A	XP_011519592.1:p.Tyr316Asn
XM_005254202.3:c.1045T>A	XP_005254259.1:p.Tyr349Asn
XM_011521289.3:c.946T>A	XP_011519591.1:p.Tyr316Asn
NM_152594.3:c.1009T>A MANE Select	NP_689807.1:p.Tyr337Asn