Canonical Allele Identifier: CA345667653

Gene: SDCCAG8

Linked Data

• MyVariant Identifiers: chr1:g.243589736A>C (hg19) ; chr1:g.243426434A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.243426434A>C , CM000663.2:g.243426434A>C	GRCh38
NC_000001.10:g.243589736A>C , CM000663.1:g.243589736A>C	GRCh37
NC_000001.9:g.241656359A>C	NCBI36
NG_027811.1:g.175430A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366541.8:c.1861A>C MANE Select	ENSP00000355499.3:p.Ile621Leu
ENST00000366541.7:c.1861A>C	ENSP00000355499.3:p.Ile621Leu
ENST00000435549.1:c.964A>C	ENSP00000410200.1:p.Ile322Leu
ENST00000463042.1:n.68A>C
NM_006642.3:c.1861A>C	NP_006633.1:p.Ile621Leu
XM_005273013.3:c.1732A>C	XP_005273070.1:p.Ile578Leu
XM_005273018.1:c.1438A>C	XP_005273075.1:p.Ile480Leu
XM_005273021.3:c.958A>C	XP_005273078.1:p.Ile320Leu
XM_005273022.2:c.940A>C	XP_005273079.1:p.Ile314Leu
XM_006711727.2:c.1891A>C	XP_006711790.1:p.Ile631Leu
XM_006711728.2:c.1762A>C	XP_006711791.1:p.Ile588Leu
XM_006711729.2:c.1702A>C	XP_006711792.1:p.Ile568Leu
XM_011544021.1:c.1987A>C	XP_011542323.1:p.Ile663Leu
XM_011544022.1:c.1957A>C	XP_011542324.1:p.Ile653Leu
XM_011544023.1:c.1987A>C	XP_011542325.1:p.Ile663Leu
XM_011544024.1:c.1987A>C	XP_011542326.1:p.Ile663Leu
XM_011544025.1:c.1798A>C	XP_011542327.1:p.Ile600Leu
XM_011544026.1:c.1750A>C	XP_011542328.1:p.Ile584Leu
XM_011544027.1:c.1573A>C	XP_011542329.1:p.Ile525Leu
XM_011544028.1:c.1525A>C	XP_011542330.1:p.Ile509Leu
XM_011544030.1:c.916A>C	XP_011542332.1:p.Ile306Leu
XR_949128.1:n.2011A>C
NM_001350246.1:c.958A>C	NP_001337175.1:p.Ile320Leu
NM_001350247.1:c.958A>C	NP_001337176.1:p.Ile320Leu
NM_001350248.1:c.1957A>C	NP_001337177.1:p.Ile653Leu
NM_001350249.1:c.1567A>C	NP_001337178.1:p.Ile523Leu
NM_001350251.1:c.958A>C	NP_001337180.1:p.Ile320Leu
NM_006642.4:c.1861A>C	NP_006633.1:p.Ile621Leu
XM_005273013.5:c.1732A>C	XP_005273070.1:p.Ile578Leu
XM_005273018.2:c.1438A>C	XP_005273075.1:p.Ile480Leu
XM_005273022.4:c.940A>C	XP_005273079.1:p.Ile314Leu
XM_011544026.3:c.1750A>C	XP_011542328.1:p.Ile584Leu
XM_011544028.3:c.1525A>C	XP_011542330.1:p.Ile509Leu
XM_011544030.3:c.916A>C	XP_011542332.1:p.Ile306Leu
XM_017000104.2:c.1732A>C	XP_016855593.1:p.Ile578Leu
XM_017000105.2:c.1624A>C	XP_016855594.1:p.Ile542Leu
XM_024452537.1:c.1663A>C	XP_024308305.1:p.Ile555Leu
XM_024452539.1:c.1663A>C	XP_024308307.1:p.Ile555Leu
XM_024452540.1:c.1663A>C	XP_024308308.1:p.Ile555Leu
XM_024452547.1:c.1567A>C	XP_024308315.1:p.Ile523Leu
XM_024452548.1:c.1663A>C	XP_024308316.1:p.Ile555Leu
XM_024452549.1:c.1330A>C	XP_024308317.1:p.Ile444Leu
XR_002958955.1:n.1903A>C
XR_002958956.1:n.1903A>C
XR_002958965.1:n.1794A>C
NM_006642.5:c.1861A>C MANE Select	NP_006633.1:p.Ile621Leu
NM_001350246.2:c.958A>C	NP_001337175.1:p.Ile320Leu
NM_001350247.2:c.958A>C	NP_001337176.1:p.Ile320Leu
NM_001350248.2:c.1957A>C	NP_001337177.1:p.Ile653Leu
NM_001350249.2:c.1567A>C	NP_001337178.1:p.Ile523Leu
NM_001350251.2:c.958A>C	NP_001337180.1:p.Ile320Leu