Canonical Allele Identifier: CA2406462527

Gene: SREBF2

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.41880757G= , CM000684.2:g.41880757G=	GRCh38
NC_000022.10:g.42276761G= , CM000684.1:g.42276761G=	GRCh37
NC_000022.9:g.40606707G=	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000710853.1:c.1713G=	ENSP00000518526.1:p.Leu571=
ENST00000361204.9:c.1803G= MANE Select	ENSP00000354476.4:p.Leu601=
ENST00000361204.8:c.1803G=	ENSP00000354476.4:p.Leu601=
ENST00000424354.5:c.1903G=	ENSP00000395728.1:p.Gly635=
ENST00000612482.4:c.1813G=	ENSP00000484441.1:p.Gly605=
NM_004599.3:c.1803G=	NP_004590.2:p.Leu601=
NR_103834.1:n.2095G=
XM_006724310.1:c.1713G=	XP_006724373.1:p.Leu571=
XM_011530347.1:c.1428G=	XP_011528649.1:p.Leu476=
XM_006724310.3:c.1713G=	XP_006724373.1:p.Leu571=
XM_011530347.2:c.1428G=	XP_011528649.1:p.Leu476=
XM_017028921.2:c.1803G=	XP_016884410.1:p.Leu601=
XM_017028922.2:c.1803G=	XP_016884411.1:p.Leu601=
XR_001755276.2:n.1946G=
XR_001755277.2:n.1946G=
XR_001755278.2:n.2069G=
NM_004599.4:c.1803G= MANE Select	NP_004590.2:p.Leu601=
NR_103834.2:n.2069G=