Canonical Allele Identifier: CA345667761

Gene: SDCCAG8

Linked Data

• gnomAD v4: 1-243426482-A-G
• MyVariant Identifiers: chr1:g.243589784A>G (hg19) ; chr1:g.243426482A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.243426482A>G , CM000663.2:g.243426482A>G	GRCh38
NC_000001.10:g.243589784A>G , CM000663.1:g.243589784A>G	GRCh37
NC_000001.9:g.241656407A>G	NCBI36
NG_027811.1:g.175478A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366541.8:c.1909A>G MANE Select	ENSP00000355499.3:p.Lys637Glu
ENST00000366541.7:c.1909A>G	ENSP00000355499.3:p.Lys637Glu
ENST00000435549.1:c.1012A>G	ENSP00000410200.1:p.Lys338Glu
ENST00000463042.1:n.116A>G
NM_006642.3:c.1909A>G	NP_006633.1:p.Lys637Glu
XM_005273013.3:c.1780A>G	XP_005273070.1:p.Lys594Glu
XM_005273018.1:c.1486A>G	XP_005273075.1:p.Lys496Glu
XM_005273021.3:c.1006A>G	XP_005273078.1:p.Lys336Glu
XM_005273022.2:c.988A>G	XP_005273079.1:p.Lys330Glu
XM_006711727.2:c.1939A>G	XP_006711790.1:p.Lys647Glu
XM_006711728.2:c.1810A>G	XP_006711791.1:p.Lys604Glu
XM_006711729.2:c.1750A>G	XP_006711792.1:p.Lys584Glu
XM_011544021.1:c.2035A>G	XP_011542323.1:p.Lys679Glu
XM_011544022.1:c.2005A>G	XP_011542324.1:p.Lys669Glu
XM_011544023.1:c.2035A>G	XP_011542325.1:p.Lys679Glu
XM_011544024.1:c.2035A>G	XP_011542326.1:p.Lys679Glu
XM_011544025.1:c.1846A>G	XP_011542327.1:p.Lys616Glu
XM_011544026.1:c.1798A>G	XP_011542328.1:p.Lys600Glu
XM_011544027.1:c.1621A>G	XP_011542329.1:p.Lys541Glu
XM_011544028.1:c.1573A>G	XP_011542330.1:p.Lys525Glu
XM_011544030.1:c.964A>G	XP_011542332.1:p.Lys322Glu
XR_949128.1:n.2059A>G
NM_001350246.1:c.1006A>G	NP_001337175.1:p.Lys336Glu
NM_001350247.1:c.1006A>G	NP_001337176.1:p.Lys336Glu
NM_001350248.1:c.2005A>G	NP_001337177.1:p.Lys669Glu
NM_001350249.1:c.1615A>G	NP_001337178.1:p.Lys539Glu
NM_001350251.1:c.1006A>G	NP_001337180.1:p.Lys336Glu
NM_006642.4:c.1909A>G	NP_006633.1:p.Lys637Glu
XM_005273013.5:c.1780A>G	XP_005273070.1:p.Lys594Glu
XM_005273018.2:c.1486A>G	XP_005273075.1:p.Lys496Glu
XM_005273022.4:c.988A>G	XP_005273079.1:p.Lys330Glu
XM_011544026.3:c.1798A>G	XP_011542328.1:p.Lys600Glu
XM_011544028.3:c.1573A>G	XP_011542330.1:p.Lys525Glu
XM_011544030.3:c.964A>G	XP_011542332.1:p.Lys322Glu
XM_017000104.2:c.1780A>G	XP_016855593.1:p.Lys594Glu
XM_017000105.2:c.1672A>G	XP_016855594.1:p.Lys558Glu
XM_024452537.1:c.1711A>G	XP_024308305.1:p.Lys571Glu
XM_024452539.1:c.1711A>G	XP_024308307.1:p.Lys571Glu
XM_024452540.1:c.1711A>G	XP_024308308.1:p.Lys571Glu
XM_024452547.1:c.1615A>G	XP_024308315.1:p.Lys539Glu
XM_024452548.1:c.1711A>G	XP_024308316.1:p.Lys571Glu
XM_024452549.1:c.1378A>G	XP_024308317.1:p.Lys460Glu
XR_002958955.1:n.1951A>G
XR_002958956.1:n.1951A>G
XR_002958965.1:n.1842A>G
NM_006642.5:c.1909A>G MANE Select	NP_006633.1:p.Lys637Glu
NM_001350246.2:c.1006A>G	NP_001337175.1:p.Lys336Glu
NM_001350247.2:c.1006A>G	NP_001337176.1:p.Lys336Glu
NM_001350248.2:c.2005A>G	NP_001337177.1:p.Lys669Glu
NM_001350249.2:c.1615A>G	NP_001337178.1:p.Lys539Glu
NM_001350251.2:c.1006A>G	NP_001337180.1:p.Lys336Glu