Canonical Allele Identifier: CA345667812

Gene: SDCCAG8

Linked Data

• MyVariant Identifiers: chr1:g.243589805G>T (hg19) ; chr1:g.243426503G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.243426503G>T , CM000663.2:g.243426503G>T	GRCh38
NC_000001.10:g.243589805G>T , CM000663.1:g.243589805G>T	GRCh37
NC_000001.9:g.241656428G>T	NCBI36
NG_027811.1:g.175499G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366541.8:c.1930G>T MANE Select	ENSP00000355499.3:p.Glu644Ter
ENST00000366541.7:c.1930G>T	ENSP00000355499.3:p.Glu644Ter
ENST00000435549.1:c.1033G>T	ENSP00000410200.1:p.Glu345Ter
ENST00000463042.1:n.137G>T
NM_006642.3:c.1930G>T	NP_006633.1:p.Glu644Ter
XM_005273013.3:c.1801G>T	XP_005273070.1:p.Glu601Ter
XM_005273018.1:c.1507G>T	XP_005273075.1:p.Glu503Ter
XM_005273021.3:c.1027G>T	XP_005273078.1:p.Glu343Ter
XM_005273022.2:c.1009G>T	XP_005273079.1:p.Glu337Ter
XM_006711727.2:c.1960G>T	XP_006711790.1:p.Glu654Ter
XM_006711728.2:c.1831G>T	XP_006711791.1:p.Glu611Ter
XM_006711729.2:c.1771G>T	XP_006711792.1:p.Glu591Ter
XM_011544021.1:c.2056G>T	XP_011542323.1:p.Glu686Ter
XM_011544022.1:c.2026G>T	XP_011542324.1:p.Glu676Ter
XM_011544023.1:c.2056G>T	XP_011542325.1:p.Glu686Ter
XM_011544024.1:c.2056G>T	XP_011542326.1:p.Glu686Ter
XM_011544025.1:c.1867G>T	XP_011542327.1:p.Glu623Ter
XM_011544026.1:c.1819G>T	XP_011542328.1:p.Glu607Ter
XM_011544027.1:c.1642G>T	XP_011542329.1:p.Glu548Ter
XM_011544028.1:c.1594G>T	XP_011542330.1:p.Glu532Ter
XM_011544030.1:c.985G>T	XP_011542332.1:p.Glu329Ter
XR_949128.1:n.2080G>T
NM_001350246.1:c.1027G>T	NP_001337175.1:p.Glu343Ter
NM_001350247.1:c.1027G>T	NP_001337176.1:p.Glu343Ter
NM_001350248.1:c.2026G>T	NP_001337177.1:p.Glu676Ter
NM_001350249.1:c.1636G>T	NP_001337178.1:p.Glu546Ter
NM_001350251.1:c.1027G>T	NP_001337180.1:p.Glu343Ter
NM_006642.4:c.1930G>T	NP_006633.1:p.Glu644Ter
XM_005273013.5:c.1801G>T	XP_005273070.1:p.Glu601Ter
XM_005273018.2:c.1507G>T	XP_005273075.1:p.Glu503Ter
XM_005273022.4:c.1009G>T	XP_005273079.1:p.Glu337Ter
XM_011544026.3:c.1819G>T	XP_011542328.1:p.Glu607Ter
XM_011544028.3:c.1594G>T	XP_011542330.1:p.Glu532Ter
XM_011544030.3:c.985G>T	XP_011542332.1:p.Glu329Ter
XM_017000104.2:c.1801G>T	XP_016855593.1:p.Glu601Ter
XM_017000105.2:c.1693G>T	XP_016855594.1:p.Glu565Ter
XM_024452537.1:c.1732G>T	XP_024308305.1:p.Glu578Ter
XM_024452539.1:c.1732G>T	XP_024308307.1:p.Glu578Ter
XM_024452540.1:c.1732G>T	XP_024308308.1:p.Glu578Ter
XM_024452547.1:c.1636G>T	XP_024308315.1:p.Glu546Ter
XM_024452548.1:c.1732G>T	XP_024308316.1:p.Glu578Ter
XM_024452549.1:c.1399G>T	XP_024308317.1:p.Glu467Ter
XR_002958955.1:n.1972G>T
XR_002958956.1:n.1972G>T
XR_002958965.1:n.1863G>T
NM_006642.5:c.1930G>T MANE Select	NP_006633.1:p.Glu644Ter
NM_001350246.2:c.1027G>T	NP_001337175.1:p.Glu343Ter
NM_001350247.2:c.1027G>T	NP_001337176.1:p.Glu343Ter
NM_001350248.2:c.2026G>T	NP_001337177.1:p.Glu676Ter
NM_001350249.2:c.1636G>T	NP_001337178.1:p.Glu546Ter
NM_001350251.2:c.1027G>T	NP_001337180.1:p.Glu343Ter