Canonical Allele Identifier: CA1648215

Gene: TTC7A STPG4

Linked Data

• dbSNP Id: rs756451881
• ExAC: 2:47301080 G / C
• gnomAD v2: 2-47301080-G-C
• gnomAD v4: 2-47073941-G-C
• MyVariant Identifiers: chr2:g.47301080G>C (hg19) ; chr2:g.47073941G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47073941G>C , CM000664.2:g.47073941G>C	GRCh38
NC_000002.11:g.47301080G>C , CM000664.1:g.47301080G>C	GRCh37
NC_000002.10:g.47154584G>C	NCBI36
NG_034143.1:g.162813G>C
NG_034143.2:g.162813G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698500.1:n.4428G>C (TTC7A)
ENST00000698503.1:n.2601G>C (TTC7A)
ENST00000319190.11:c.*18G>C (TTC7A) MANE Select	ENSP00000316699.5:n.*18G>C
ENST00000651101.1:n.1193G>C (TTC7A)
ENST00000651415.1:n.1386G>C (TTC7A)
ENST00000652236.1:n.1296G>C (TTC7A)
ENST00000652568.1:n.1268G>C (TTC7A)
ENST00000319190.9:c.*18G>C (TTC7A)	ENSP00000316699.5:n.*18G>C
ENST00000394850.6:c.*18G>C (TTC7A)	ENSP00000378320.2:n.*18G>C
ENST00000409245.5:c.*18G>C (TTC7A)	ENSP00000386307.1:n.*18G>C
ENST00000409825.5:c.2543G>C (TTC7A)
ENST00000422269.1:c.787-7804C>G
ENST00000464527.2:n.399-7804C>G (STPG4)
ENST00000482548.1:n.402-5385C>G (STPG4)
ENST00000484061.5:n.1702G>C (TTC7A)
ENST00000491786.5:n.1999G>C (TTC7A)
ENST00000496939.1:n.416-27022C>G (STPG4)
NM_001288951.1:c.*18G>C (TTC7A)	NP_001275880.1:n.*18G>C
NM_001288953.1:c.*18G>C (TTC7A)	NP_001275882.1:n.*18G>C
NM_001288955.1:c.*18G>C (TTC7A)	NP_001275884.1:n.*18G>C
NM_020458.3:c.*18G>C (TTC7A)	NP_065191.2:n.*18G>C
XM_005264439.2:c.*18G>C (TTC7A)	XP_005264496.1:n.*18G>C
XM_011532998.1:c.*18G>C (TTC7A)	XP_011531300.1:n.*18G>C
XM_011533000.1:c.*18G>C (TTC7A)	XP_011531302.1:n.*18G>C
XM_011533001.1:c.*18G>C (TTC7A)	XP_011531303.1:n.*18G>C
XM_005264439.4:c.*18G>C (TTC7A)	XP_005264496.1:n.*18G>C
XM_011532998.3:c.*18G>C (TTC7A)	XP_011531300.1:n.*18G>C
XM_011533000.3:c.*18G>C (TTC7A)	XP_011531302.1:n.*18G>C
XM_011533001.3:c.*18G>C (TTC7A)	XP_011531303.1:n.*18G>C
XM_017004524.1:c.*18G>C (TTC7A)	XP_016860013.1:n.*18G>C
XM_017004525.1:c.*18G>C (TTC7A)	XP_016860014.1:n.*18G>C
XM_017004526.1:c.*18G>C (TTC7A)	XP_016860015.1:n.*18G>C
XM_024453013.1:c.*18G>C (TTC7A)	XP_024308781.1:n.*18G>C
NM_020458.4:c.*18G>C (TTC7A) MANE Select	NP_065191.2:n.*18G>C
NM_001288951.2:c.*18G>C (TTC7A)	NP_001275880.1:n.*18G>C
NM_001288953.2:c.*18G>C (TTC7A)	NP_001275882.1:n.*18G>C
NM_001288955.2:c.*18G>C (TTC7A)	NP_001275884.1:n.*18G>C