Canonical Allele Identifier: CA1648179

Gene: TTC7A STPG4

Linked Data

• dbSNP Id: rs760257069
• ExAC: 2:47300976 G / T
• gnomAD v4: 2-47073837-G-T
• MyVariant Identifiers: chr2:g.47300976G>T (hg19) ; chr2:g.47073837G>T (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698500.1:n.4324G>T (TTC7A)
ENST00000698503.1:n.2497G>T (TTC7A)
ENST00000319190.11:c.2491G>T (TTC7A) MANE Select	ENSP00000316699.5:p.Ala831Ser
ENST00000651101.1:n.1089G>T (TTC7A)
ENST00000651415.1:n.1282G>T (TTC7A)
ENST00000652236.1:n.1192G>T (TTC7A)
ENST00000652568.1:n.1164G>T (TTC7A)
ENST00000319190.9:c.2491G>T (TTC7A)	ENSP00000316699.5:p.Ala831Ser
ENST00000394850.6:c.2563G>T (TTC7A)	ENSP00000378320.2:p.Ala855Ser
ENST00000409245.5:c.2389G>T (TTC7A)	ENSP00000386307.1:p.Ala797Ser
ENST00000409825.5:c.2439G>T (TTC7A)
ENST00000422269.1:c.787-7700C>A
ENST00000441914.5:c.2332G>T (TTC7A)
ENST00000464527.2:n.399-7700C>A (STPG4)
ENST00000482548.1:n.402-5281C>A (STPG4)
ENST00000484061.5:n.1598G>T (TTC7A)
ENST00000491786.5:n.1895G>T (TTC7A)
ENST00000496939.1:n.416-26918C>A (STPG4)
NM_001288951.1:c.2563G>T (TTC7A)	NP_001275880.1:p.Ala855Ser
NM_001288953.1:c.2389G>T (TTC7A)	NP_001275882.1:p.Ala797Ser
NM_001288955.1:c.1429G>T (TTC7A)	NP_001275884.1:p.Ala477Ser
NM_020458.3:c.2491G>T (TTC7A)	NP_065191.2:p.Ala831Ser
XM_005264439.2:c.2134G>T (TTC7A)	XP_005264496.1:p.Ala712Ser
XM_011532998.1:c.2134G>T (TTC7A)	XP_011531300.1:p.Ala712Ser
XM_011533000.1:c.1711G>T (TTC7A)	XP_011531302.1:p.Ala571Ser
XM_011533001.1:c.1444G>T (TTC7A)	XP_011531303.1:p.Ala482Ser
XM_005264439.4:c.2134G>T (TTC7A)	XP_005264496.1:p.Ala712Ser
XM_011532998.3:c.2134G>T (TTC7A)	XP_011531300.1:p.Ala712Ser
XM_011533000.3:c.1711G>T (TTC7A)	XP_011531302.1:p.Ala571Ser
XM_011533001.3:c.1444G>T (TTC7A)	XP_011531303.1:p.Ala482Ser
XM_017004524.1:c.2374G>T (TTC7A)	XP_016860013.1:p.Ala792Ser
XM_017004525.1:c.2323G>T (TTC7A)	XP_016860014.1:p.Ala775Ser
XM_017004526.1:c.2242G>T (TTC7A)	XP_016860015.1:p.Ala748Ser
XM_024453013.1:c.1456G>T (TTC7A)	XP_024308781.1:p.Ala486Ser
NM_020458.4:c.2491G>T (TTC7A) MANE Select	NP_065191.2:p.Ala831Ser
NM_001288951.2:c.2563G>T (TTC7A)	NP_001275880.1:p.Ala855Ser
NM_001288953.2:c.2389G>T (TTC7A)	NP_001275882.1:p.Ala797Ser
NM_001288955.2:c.1429G>T (TTC7A)	NP_001275884.1:p.Ala477Ser