Canonical Allele Identifier: CA46635095

Gene: TTC7A STPG4

Linked Data

• dbSNP Id: rs917306849
• gnomAD v4: 2-47074154-G-C
• MyVariant Identifiers: chr2:g.47301293G>C (hg19) ; chr2:g.47074154G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47074154G>C , CM000664.2:g.47074154G>C	GRCh38
NC_000002.11:g.47301293G>C , CM000664.1:g.47301293G>C	GRCh37
NC_000002.10:g.47154797G>C	NCBI36
NG_034143.1:g.163026G>C
NG_034143.2:g.163026G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698500.1:n.4641G>C (TTC7A)
ENST00000698503.1:n.2814G>C (TTC7A)
ENST00000319190.11:c.*231G>C (TTC7A) MANE Select	ENSP00000316699.5:n.*231G>C
ENST00000651101.1:n.1406G>C (TTC7A)
ENST00000651415.1:n.1599G>C (TTC7A)
ENST00000652236.1:n.1509G>C (TTC7A)
ENST00000652568.1:n.1481G>C (TTC7A)
ENST00000319190.9:c.*231G>C (TTC7A)	ENSP00000316699.5:n.*231G>C
ENST00000394850.6:c.*231G>C (TTC7A)	ENSP00000378320.2:n.*231G>C
ENST00000409825.5:c.2756G>C (TTC7A)
ENST00000422269.1:c.787-8017C>G
ENST00000464527.2:n.399-8017C>G (STPG4)
ENST00000482548.1:n.402-5598C>G (STPG4)
ENST00000484061.5:n.1915G>C (TTC7A)
ENST00000491786.5:n.2212G>C (TTC7A)
ENST00000496939.1:n.416-27235C>G (STPG4)
NM_001288951.1:c.*231G>C (TTC7A)	NP_001275880.1:n.*231G>C
NM_001288953.1:c.*231G>C (TTC7A)	NP_001275882.1:n.*231G>C
NM_001288955.1:c.*231G>C (TTC7A)	NP_001275884.1:n.*231G>C
NM_020458.3:c.*231G>C (TTC7A)	NP_065191.2:n.*231G>C
XM_005264439.2:c.*231G>C (TTC7A)	XP_005264496.1:n.*231G>C
XM_011532998.1:c.*231G>C (TTC7A)	XP_011531300.1:n.*231G>C
XM_011533000.1:c.*231G>C (TTC7A)	XP_011531302.1:n.*231G>C
XM_011533001.1:c.*231G>C (TTC7A)	XP_011531303.1:n.*231G>C
XM_005264439.4:c.*231G>C (TTC7A)	XP_005264496.1:n.*231G>C
XM_011532998.3:c.*231G>C (TTC7A)	XP_011531300.1:n.*231G>C
XM_011533000.3:c.*231G>C (TTC7A)	XP_011531302.1:n.*231G>C
XM_011533001.3:c.*231G>C (TTC7A)	XP_011531303.1:n.*231G>C
XM_017004524.1:c.*231G>C (TTC7A)	XP_016860013.1:n.*231G>C
XM_017004525.1:c.*231G>C (TTC7A)	XP_016860014.1:n.*231G>C
XM_017004526.1:c.*231G>C (TTC7A)	XP_016860015.1:n.*231G>C
XM_024453013.1:c.*231G>C (TTC7A)	XP_024308781.1:n.*231G>C
NM_020458.4:c.*231G>C (TTC7A) MANE Select	NP_065191.2:n.*231G>C
NM_001288951.2:c.*231G>C (TTC7A)	NP_001275880.1:n.*231G>C
NM_001288953.2:c.*231G>C (TTC7A)	NP_001275882.1:n.*231G>C
NM_001288955.2:c.*231G>C (TTC7A)	NP_001275884.1:n.*231G>C