Canonical Allele Identifier: CA8419347

Gene: SREBF1

Linked Data - Expert Curation

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.17812003C>G , CM000679.2:g.17812003C>G	GRCh38
NC_000017.10:g.17715317C>G , CM000679.1:g.17715317C>G	GRCh37
NC_000017.9:g.17656042C>G	NCBI36
NG_007101.2:g.135531C>G
NG_029029.1:g.30009G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261646.11:c.*619G>C MANE Select	ENSP00000261646.5:n.*619G>C
ENST00000261646.10:c.*619G>C	ENSP00000261646.5:n.*619G>C
ENST00000395757.6:c.3156G>C	ENSP00000379106.2:p.Gly1052=
ENST00000485080.6:c.367G>C	ENSP00000466643.1:n.367G>C
ENST00000578469.1:c.129G>C
NM_001005291.2:c.*619G>C	NP_001005291.1:n.*619G>C
NM_004176.4:c.*619G>C	NP_004167.3:n.*619G>C
XM_005256772.3:c.*619G>C	XP_005256829.1:n.*619G>C
XM_006721570.2:c.*619G>C	XP_006721633.1:n.*619G>C
XM_011523998.1:c.*619G>C	XP_011522300.1:n.*619G>C
XM_011523999.1:c.*619G>C	XP_011522301.1:n.*619G>C
XR_429821.2:n.4263G>C
XM_024450895.1:c.*34G>C	XP_024306663.1:n.*34G>C
XR_002958058.1:n.3555G>C
NM_001005291.3:c.*619G>C	NP_001005291.1:n.*619G>C
NM_001321096.3:c.*619G>C	NP_001308025.1:n.*619G>C
NM_001388385.1:c.*619G>C	NP_001375314.1:n.*619G>C
NM_001388386.1:c.*444G>C	NP_001375315.1:n.*444G>C
NM_001388387.1:c.*619G>C	NP_001375316.1:n.*619G>C
NM_001388388.1:c.*444G>C	NP_001375317.1:n.*444G>C
NM_001388389.1:c.*619G>C	NP_001375318.1:n.*619G>C
NM_001388390.1:c.*619G>C	NP_001375319.1:n.*619G>C
NM_001388391.1:c.*619G>C	NP_001375320.1:n.*619G>C
NM_001388392.1:c.*619G>C	NP_001375321.1:n.*619G>C
NM_001388393.1:c.*619G>C	NP_001375322.1:n.*619G>C
NM_001388394.1:c.*619G>C	NP_001375323.1:n.*619G>C
NM_004176.5:c.*619G>C MANE Select	NP_004167.3:n.*619G>C
NR_170943.1:n.4232G>C
NR_170944.1:n.3437G>C
NR_170945.1:n.3527G>C
NR_170990.1:n.3437G>C