Canonical Allele Identifier: CA408364107

Gene: SEC23B

Linked Data

• MyVariant Identifiers: chr20:g.18523742C>A (hg19) ; chr20:g.18543098C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.18543098C>A , CM000682.2:g.18543098C>A	GRCh38
NC_000020.10:g.18523742C>A , CM000682.1:g.18523742C>A	GRCh37
NC_000020.9:g.18471742C>A	NCBI36
NG_016281.1:g.40555C>A
NG_016281.2:g.40617C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000336714.8:c.1591C>A	ENSP00000338844.3:p.Leu531Ile
ENST00000377465.6:c.1591C>A	ENSP00000366685.1:p.Leu531Ile
ENST00000643747.1:c.1537C>A	ENSP00000496460.1:p.Leu513Ile
ENST00000650089.1:c.1591C>A MANE Select	ENSP00000497473.1:p.Leu531Ile
ENST00000262544.6:c.1591C>A	ENSP00000262544.2:p.Leu531Ile
ENST00000336714.7:c.1591C>A	ENSP00000338844.3:p.Leu531Ile
ENST00000377465.5:c.1591C>A	ENSP00000366685.1:p.Leu531Ile
ENST00000377475.7:c.1591C>A	ENSP00000366695.3:p.Leu531Ile
ENST00000422877.1:c.115C>A	ENSP00000409882.1:p.Leu39Ile
NM_001172745.1:c.1591C>A	NP_001166216.1:p.Leu531Ile
NM_001172746.1:c.1537C>A	NP_001166217.1:p.Leu513Ile
NM_006363.4:c.1591C>A	NP_006354.2:p.Leu531Ile
NM_032985.4:c.1591C>A	NP_116780.1:p.Leu531Ile
NM_032986.3:c.1591C>A	NP_116781.1:p.Leu531Ile
NM_001172745.2:c.1591C>A	NP_001166216.1:p.Leu531Ile
NM_001172746.2:c.1537C>A	NP_001166217.1:p.Leu513Ile
NM_006363.6:c.1591C>A MANE Select	NP_006354.2:p.Leu531Ile
NM_032985.5:c.1591C>A	NP_116780.1:p.Leu531Ile
NM_032986.4:c.1591C>A	NP_116781.1:p.Leu531Ile
XM_017027593.1:c.1591C>A	XP_016883082.1:p.Leu531Ile
NM_001172745.3:c.1591C>A	NP_001166216.1:p.Leu531Ile
NM_001172746.3:c.1537C>A	NP_001166217.1:p.Leu513Ile
NM_032985.6:c.1591C>A	NP_116780.1:p.Leu531Ile
NM_032986.5:c.1591C>A	NP_116781.1:p.Leu531Ile