Canonical Allele Identifier: CA346718046

Gene: TTC7A STPG4

Linked Data

• dbSNP Id: rs760257069
• gnomAD v2: 2-47300976-G-C
• MyVariant Identifiers: chr2:g.47300976G>C (hg19) ; chr2:g.47073837G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47073837G>C , CM000664.2:g.47073837G>C	GRCh38
NC_000002.11:g.47300976G>C , CM000664.1:g.47300976G>C	GRCh37
NC_000002.10:g.47154480G>C	NCBI36
NG_034143.1:g.162709G>C
NG_034143.2:g.162709G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698500.1:n.4324G>C (TTC7A)
ENST00000698503.1:n.2497G>C (TTC7A)
ENST00000319190.11:c.2491G>C (TTC7A) MANE Select	ENSP00000316699.5:p.Ala831Pro
ENST00000651101.1:n.1089G>C (TTC7A)
ENST00000651415.1:n.1282G>C (TTC7A)
ENST00000652236.1:n.1192G>C (TTC7A)
ENST00000652568.1:n.1164G>C (TTC7A)
ENST00000319190.9:c.2491G>C (TTC7A)	ENSP00000316699.5:p.Ala831Pro
ENST00000394850.6:c.2563G>C (TTC7A)	ENSP00000378320.2:p.Ala855Pro
ENST00000409245.5:c.2389G>C (TTC7A)	ENSP00000386307.1:p.Ala797Pro
ENST00000409825.5:c.2439G>C (TTC7A)
ENST00000422269.1:c.787-7700C>G
ENST00000441914.5:c.2332G>C (TTC7A)
ENST00000464527.2:n.399-7700C>G (STPG4)
ENST00000482548.1:n.402-5281C>G (STPG4)
ENST00000484061.5:n.1598G>C (TTC7A)
ENST00000491786.5:n.1895G>C (TTC7A)
ENST00000496939.1:n.416-26918C>G (STPG4)
NM_001288951.1:c.2563G>C (TTC7A)	NP_001275880.1:p.Ala855Pro
NM_001288953.1:c.2389G>C (TTC7A)	NP_001275882.1:p.Ala797Pro
NM_001288955.1:c.1429G>C (TTC7A)	NP_001275884.1:p.Ala477Pro
NM_020458.3:c.2491G>C (TTC7A)	NP_065191.2:p.Ala831Pro
XM_005264439.2:c.2134G>C (TTC7A)	XP_005264496.1:p.Ala712Pro
XM_011532998.1:c.2134G>C (TTC7A)	XP_011531300.1:p.Ala712Pro
XM_011533000.1:c.1711G>C (TTC7A)	XP_011531302.1:p.Ala571Pro
XM_011533001.1:c.1444G>C (TTC7A)	XP_011531303.1:p.Ala482Pro
XM_005264439.4:c.2134G>C (TTC7A)	XP_005264496.1:p.Ala712Pro
XM_011532998.3:c.2134G>C (TTC7A)	XP_011531300.1:p.Ala712Pro
XM_011533000.3:c.1711G>C (TTC7A)	XP_011531302.1:p.Ala571Pro
XM_011533001.3:c.1444G>C (TTC7A)	XP_011531303.1:p.Ala482Pro
XM_017004524.1:c.2374G>C (TTC7A)	XP_016860013.1:p.Ala792Pro
XM_017004525.1:c.2323G>C (TTC7A)	XP_016860014.1:p.Ala775Pro
XM_017004526.1:c.2242G>C (TTC7A)	XP_016860015.1:p.Ala748Pro
XM_024453013.1:c.1456G>C (TTC7A)	XP_024308781.1:p.Ala486Pro
NM_020458.4:c.2491G>C (TTC7A) MANE Select	NP_065191.2:p.Ala831Pro
NM_001288951.2:c.2563G>C (TTC7A)	NP_001275880.1:p.Ala855Pro
NM_001288953.2:c.2389G>C (TTC7A)	NP_001275882.1:p.Ala797Pro
NM_001288955.2:c.1429G>C (TTC7A)	NP_001275884.1:p.Ala477Pro