Canonical Allele Identifier: CA288381285

Gene: SREBF1

Linked Data

• dbSNP Id: rs998986010
• gnomAD v3: 17-17811692-C-T
• gnomAD v4: 17-17811692-C-T
• MyVariant Identifiers: chr17:g.17715006C>T (hg19) ; chr17:g.17811692C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.17811692C>T , CM000679.2:g.17811692C>T	GRCh38
NC_000017.10:g.17715006C>T , CM000679.1:g.17715006C>T	GRCh37
NC_000017.9:g.17655731C>T	NCBI36
NG_007101.2:g.135220C>T
NG_029029.1:g.30320G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000261646.11:c.*930G>A MANE Select	ENSP00000261646.5:n.*930G>A
ENST00000261646.10:c.*930G>A	ENSP00000261646.5:n.*930G>A
ENST00000395757.6:c.*63G>A	ENSP00000379106.2:n.*63G>A
ENST00000485080.6:c.436G>A	ENSP00000466643.1:n.436G>A
ENST00000578469.1:c.252G>A
NM_001005291.2:c.*930G>A	NP_001005291.1:n.*930G>A
NM_004176.4:c.*930G>A	NP_004167.3:n.*930G>A
XM_005256772.3:c.*930G>A	XP_005256829.1:n.*930G>A
XM_006721570.2:c.*930G>A	XP_006721633.1:n.*930G>A
XM_011523998.1:c.*930G>A	XP_011522300.1:n.*930G>A
XM_011523999.1:c.*930G>A	XP_011522301.1:n.*930G>A
XR_429821.2:n.4386G>A
XM_024450895.1:c.*345G>A	XP_024306663.1:n.*345G>A
XR_002958058.1:n.3678G>A
NM_001005291.3:c.*930G>A	NP_001005291.1:n.*930G>A
NM_001321096.3:c.*930G>A	NP_001308025.1:n.*930G>A
NM_001388385.1:c.*930G>A	NP_001375314.1:n.*930G>A
NM_001388386.1:c.*755G>A	NP_001375315.1:n.*755G>A
NM_001388387.1:c.*930G>A	NP_001375316.1:n.*930G>A
NM_001388388.1:c.*755G>A	NP_001375317.1:n.*755G>A
NM_001388389.1:c.*930G>A	NP_001375318.1:n.*930G>A
NM_001388390.1:c.*930G>A	NP_001375319.1:n.*930G>A
NM_001388391.1:c.*930G>A	NP_001375320.1:n.*930G>A
NM_001388392.1:c.*930G>A	NP_001375321.1:n.*930G>A
NM_001388393.1:c.*930G>A	NP_001375322.1:n.*930G>A
NM_001388394.1:c.*930G>A	NP_001375323.1:n.*930G>A
NM_004176.5:c.*930G>A MANE Select	NP_004167.3:n.*930G>A
NR_170943.1:n.4355G>A
NR_170944.1:n.3560G>A
NR_170945.1:n.3650G>A
NR_170990.1:n.3506G>A