Canonical Allele Identifier: CA1648136

Gene: TTC7A STPG4

Linked Data

• ClinVar Variation Id: 2036742
• ClinVar RCV Id: RCV002882033
• dbSNP Id: rs148222280
• ExAC: 2:47300850 C / T
• gnomAD v2: 2-47300850-C-T
• gnomAD v4: 2-47073711-C-T
• MyVariant Identifiers: chr2:g.47300850C>T (hg19) ; chr2:g.47073711C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47073711C>T , CM000664.2:g.47073711C>T	GRCh38
NC_000002.11:g.47300850C>T , CM000664.1:g.47300850C>T	GRCh37
NC_000002.10:g.47154354C>T	NCBI36
NG_034143.1:g.162583C>T
NG_034143.2:g.162583C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698500.1:n.4198C>T (TTC7A)
ENST00000698503.1:n.2371C>T (TTC7A)
ENST00000698504.1:n.446C>T (TTC7A)
ENST00000319190.11:c.2365C>T (TTC7A) MANE Select	ENSP00000316699.5:p.Leu789=
ENST00000651101.1:n.963C>T (TTC7A)
ENST00000651415.1:n.1156C>T (TTC7A)
ENST00000652236.1:n.1066C>T (TTC7A)
ENST00000652568.1:n.1038C>T (TTC7A)
ENST00000319190.9:c.2365C>T (TTC7A)	ENSP00000316699.5:p.Leu789=
ENST00000394850.6:c.2437C>T (TTC7A)	ENSP00000378320.2:p.Leu813=
ENST00000409245.5:c.2263C>T (TTC7A)	ENSP00000386307.1:p.Leu755=
ENST00000409825.5:c.2313C>T (TTC7A)
ENST00000422269.1:c.787-7574G>A
ENST00000441914.5:c.2206C>T (TTC7A)
ENST00000464527.2:n.399-7574G>A (STPG4)
ENST00000482548.1:n.402-5155G>A (STPG4)
ENST00000484061.5:n.1472C>T (TTC7A)
ENST00000491786.5:n.1769C>T (TTC7A)
ENST00000496939.1:n.416-26792G>A (STPG4)
NM_001288951.1:c.2437C>T (TTC7A)	NP_001275880.1:p.Leu813=
NM_001288953.1:c.2263C>T (TTC7A)	NP_001275882.1:p.Leu755=
NM_001288955.1:c.1303C>T (TTC7A)	NP_001275884.1:p.Leu435=
NM_020458.3:c.2365C>T (TTC7A)	NP_065191.2:p.Leu789=
XM_005264439.2:c.2008C>T (TTC7A)	XP_005264496.1:p.Leu670=
XM_011532998.1:c.2008C>T (TTC7A)	XP_011531300.1:p.Leu670=
XM_011533000.1:c.1585C>T (TTC7A)	XP_011531302.1:p.Leu529=
XM_011533001.1:c.1318C>T (TTC7A)	XP_011531303.1:p.Leu440=
XM_005264439.4:c.2008C>T (TTC7A)	XP_005264496.1:p.Leu670=
XM_011532998.3:c.2008C>T (TTC7A)	XP_011531300.1:p.Leu670=
XM_011533000.3:c.1585C>T (TTC7A)	XP_011531302.1:p.Leu529=
XM_011533001.3:c.1318C>T (TTC7A)	XP_011531303.1:p.Leu440=
XM_017004524.1:c.2248C>T (TTC7A)	XP_016860013.1:p.Leu750=
XM_017004525.1:c.2197C>T (TTC7A)	XP_016860014.1:p.Leu733=
XM_017004526.1:c.2116C>T (TTC7A)	XP_016860015.1:p.Leu706=
XM_024453013.1:c.1330C>T (TTC7A)	XP_024308781.1:p.Leu444=
NM_020458.4:c.2365C>T (TTC7A) MANE Select	NP_065191.2:p.Leu789=
NM_001288951.2:c.2437C>T (TTC7A)	NP_001275880.1:p.Leu813=
NM_001288953.2:c.2263C>T (TTC7A)	NP_001275882.1:p.Leu755=
NM_001288955.2:c.1303C>T (TTC7A)	NP_001275884.1:p.Leu435=