Canonical Allele Identifier: CA769427765

Gene: TTC7A STPG4

Linked Data

• dbSNP Id: rs1237224399
• gnomAD v4: 2-47074172-A-C
• MyVariant Identifiers: chr2:g.47301311A>C (hg19) ; chr2:g.47074172A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47074172A>C , CM000664.2:g.47074172A>C	GRCh38
NC_000002.11:g.47301311A>C , CM000664.1:g.47301311A>C	GRCh37
NC_000002.10:g.47154815A>C	NCBI36
NG_034143.1:g.163044A>C
NG_034143.2:g.163044A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698500.1:n.4659A>C (TTC7A)
ENST00000698503.1:n.2832A>C (TTC7A)
ENST00000319190.11:c.*249A>C (TTC7A) MANE Select	ENSP00000316699.5:n.*249A>C
ENST00000651101.1:n.1424A>C (TTC7A)
ENST00000651415.1:n.1617A>C (TTC7A)
ENST00000652236.1:n.1527A>C (TTC7A)
ENST00000652568.1:n.1499A>C (TTC7A)
ENST00000319190.9:c.*249A>C (TTC7A)	ENSP00000316699.5:n.*249A>C
ENST00000394850.6:c.*249A>C (TTC7A)	ENSP00000378320.2:n.*249A>C
ENST00000409825.5:c.2774A>C (TTC7A)
ENST00000422269.1:c.787-8035T>G
ENST00000464527.2:n.399-8035T>G (STPG4)
ENST00000482548.1:n.402-5616T>G (STPG4)
ENST00000484061.5:n.1933A>C (TTC7A)
ENST00000491786.5:n.2230A>C (TTC7A)
ENST00000496939.1:n.416-27253T>G (STPG4)
NM_001288951.1:c.*249A>C (TTC7A)	NP_001275880.1:n.*249A>C
NM_001288953.1:c.*249A>C (TTC7A)	NP_001275882.1:n.*249A>C
NM_001288955.1:c.*249A>C (TTC7A)	NP_001275884.1:n.*249A>C
NM_020458.3:c.*249A>C (TTC7A)	NP_065191.2:n.*249A>C
XM_005264439.2:c.*249A>C (TTC7A)	XP_005264496.1:n.*249A>C
XM_011532998.1:c.*249A>C (TTC7A)	XP_011531300.1:n.*249A>C
XM_011533000.1:c.*249A>C (TTC7A)	XP_011531302.1:n.*249A>C
XM_011533001.1:c.*249A>C (TTC7A)	XP_011531303.1:n.*249A>C
XM_005264439.4:c.*249A>C (TTC7A)	XP_005264496.1:n.*249A>C
XM_011532998.3:c.*249A>C (TTC7A)	XP_011531300.1:n.*249A>C
XM_011533000.3:c.*249A>C (TTC7A)	XP_011531302.1:n.*249A>C
XM_011533001.3:c.*249A>C (TTC7A)	XP_011531303.1:n.*249A>C
XM_017004524.1:c.*249A>C (TTC7A)	XP_016860013.1:n.*249A>C
XM_017004525.1:c.*249A>C (TTC7A)	XP_016860014.1:n.*249A>C
XM_017004526.1:c.*249A>C (TTC7A)	XP_016860015.1:n.*249A>C
XM_024453013.1:c.*249A>C (TTC7A)	XP_024308781.1:n.*249A>C
NM_020458.4:c.*249A>C (TTC7A) MANE Select	NP_065191.2:n.*249A>C
NM_001288951.2:c.*249A>C (TTC7A)	NP_001275880.1:n.*249A>C
NM_001288953.2:c.*249A>C (TTC7A)	NP_001275882.1:n.*249A>C
NM_001288955.2:c.*249A>C (TTC7A)	NP_001275884.1:n.*249A>C