Canonical Allele Identifier: CA46626566

Gene: TTC7A STPG4

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47051745G>C , CM000664.2:g.47051745G>C	GRCh38
NC_000002.11:g.47278884G>C , CM000664.1:g.47278884G>C	GRCh37
NC_000002.10:g.47132388G>C	NCBI36
NG_034143.1:g.140617G>C
NG_034143.2:g.140617G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_020458.4:c.2018-1G>C (TTC7A) MANE Select	NP_065191.2:n.2018-1G>C
ENST00000319190.11:c.2018-1G>C (TTC7A) MANE Select	ENSP00000316699.5:n.2018-1G>C
NM_001288951.1:c.2090-1G>C (TTC7A)	NP_001275880.1:n.2090-1G>C
NM_001288951.2:c.2090-1G>C (TTC7A)	NP_001275880.1:n.2090-1G>C
NM_001288953.1:c.1916-1G>C (TTC7A)	NP_001275882.1:n.1916-1G>C
NM_001288953.2:c.1916-1G>C (TTC7A)	NP_001275882.1:n.1916-1G>C
NM_001288955.1:c.956-1G>C (TTC7A)	NP_001275884.1:n.956-1G>C
NM_001288955.2:c.956-1G>C (TTC7A)	NP_001275884.1:n.956-1G>C
NM_020458.3:c.2018-1G>C (TTC7A)	NP_065191.2:n.2018-1G>C
ENST00000319190.9:c.2018-1G>C (TTC7A)	ENSP00000316699.5:n.2018-1G>C
ENST00000394850.6:c.2090-1G>C (TTC7A)	ENSP00000378320.2:n.2090-1G>C
ENST00000409245.5:c.1916-1G>C (TTC7A)	ENSP00000386307.1:n.1916-1G>C
ENST00000409825.5:c.1966-1G>C (TTC7A)
ENST00000441914.5:c.1859-1G>C (TTC7A)
ENST00000484061.5:n.1125-1G>C (TTC7A)
ENST00000484337.5:n.431-1G>C (TTC7A)
ENST00000491786.5:n.1422-1G>C (TTC7A)
ENST00000496939.1:n.416-4826C>G (STPG4)
ENST00000651101.1:n.751-9024G>C (TTC7A)
ENST00000651415.1:n.809-1G>C (TTC7A)
ENST00000652236.1:n.719-1G>C (TTC7A)
ENST00000652568.1:n.691-1G>C (TTC7A)
ENST00000698500.1:n.3851-1G>C (TTC7A)
ENST00000698503.1:n.2024-1G>C (TTC7A)
ENST00000698504.1:n.286+1699G>C (TTC7A)
XM_005264439.2:c.1661-1G>C (TTC7A)	XP_005264496.1:n.1661-1G>C
XM_005264439.4:c.1661-1G>C (TTC7A)	XP_005264496.1:n.1661-1G>C
XM_011532998.1:c.1661-1G>C (TTC7A)	XP_011531300.1:n.1661-1G>C
XM_011532998.3:c.1661-1G>C (TTC7A)	XP_011531300.1:n.1661-1G>C
XM_011533000.1:c.1238-1G>C (TTC7A)	XP_011531302.1:n.1238-1G>C
XM_011533000.3:c.1238-1G>C (TTC7A)	XP_011531302.1:n.1238-1G>C
XM_011533001.1:c.971-1G>C (TTC7A)	XP_011531303.1:n.971-1G>C
XM_011533001.3:c.971-1G>C (TTC7A)	XP_011531303.1:n.971-1G>C
XM_017004524.1:c.1901-1G>C (TTC7A)	XP_016860013.1:n.1901-1G>C
XM_017004525.1:c.1850-1G>C (TTC7A)	XP_016860014.1:n.1850-1G>C
XM_017004526.1:c.1769-1G>C (TTC7A)	XP_016860015.1:n.1769-1G>C
XM_017004529.1:c.2018-1G>C (TTC7A)	XP_016860018.1:n.2018-1G>C
XM_024453013.1:c.983-1G>C (TTC7A)	XP_024308781.1:n.983-1G>C
XR_939696.1:n.2323-1G>C (TTC7A)