Canonical Allele Identifier: CA5530938

Gene: SUPV3L1

Linked Data

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.69208773C>T , CM000672.2:g.69208773C>T	GRCh38
NC_000010.10:g.70968529C>T , CM000672.1:g.70968529C>T	GRCh37
NC_000010.9:g.70638535C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000359655.9:c.2099C>T MANE Select	ENSP00000352678.4:p.Ser700Leu
ENST00000359655.8:c.2099C>T	ENSP00000352678.4:p.Ser700Leu
ENST00000497254.1:n.340C>T
NM_001301683.1:c.1706C>T	NP_001288612.1:p.Ser569Leu
NM_003171.4:c.2099C>T	NP_003162.2:p.Ser700Leu
XM_011540106.1:c.1706C>T	XP_011538408.1:p.Ser569Leu
NM_001323584.1:c.1706C>T	NP_001310513.1:p.Ser569Leu
NM_001323585.1:c.1736C>T	NP_001310514.1:p.Ser579Leu
NM_001323586.1:c.1736C>T	NP_001310515.1:p.Ser579Leu
NM_001323587.1:c.1112C>T	NP_001310516.1:p.Ser371Leu
NM_001323588.1:c.1112C>T	NP_001310517.1:p.Ser371Leu
NR_136626.1:n.2111C>T
NR_136627.1:n.2246C>T
NM_003171.5:c.2099C>T MANE Select	NP_003162.2:p.Ser700Leu
NM_001301683.2:c.1706C>T	NP_001288612.1:p.Ser569Leu
NM_001323584.2:c.1706C>T	NP_001310513.1:p.Ser569Leu
NM_001323585.2:c.1736C>T	NP_001310514.1:p.Ser579Leu
NM_001323586.2:c.1736C>T	NP_001310515.1:p.Ser579Leu
NM_001323587.2:c.1112C>T	NP_001310516.1:p.Ser371Leu
NM_001323588.2:c.1112C>T	NP_001310517.1:p.Ser371Leu
NR_136626.2:n.2081C>T
NR_136627.2:n.2216C>T