Canonical Allele Identifier: CA70639231

Gene: BTD ANKRD28

Linked Data

• dbSNP Id: rs925764274
• gnomAD v2: 3-15751907-C-A
• gnomAD v3: 3-15710400-C-A
• gnomAD v4: 3-15710400-C-A
• MyVariant Identifiers: chr3:g.15751907C>A (hg19) ; chr3:g.15710400C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.15710400C>A , CM000665.2:g.15710400C>A	GRCh38
NC_000003.11:g.15751907C>A , CM000665.1:g.15751907C>A	GRCh37
NC_000003.10:g.15726911C>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000672892.2:c.1017C>A (BTD)	ENSP00000499944.2:p.Ser339Arg
ENST00000683139.1:c.1338-664G>T (ANKRD28) MANE Select	ENSP00000508086.1:n.1338-664G>T
ENST00000672141.1:c.*326C>A (BTD)	ENSP00000500210.1:n.*326C>A
ENST00000672427.1:c.1016-11370C>A (BTD)	ENSP00000500131.1:n.1016-11370C>A
ENST00000672760.1:c.401C>A (BTD)	ENSP00000500530.1:p.Ala134Glu
ENST00000672892.1:c.795C>A (BTD)	ENSP00000499944.1:p.Ser265Arg
ENST00000383777.5:c.786-664G>T (ANKRD28)	ENSP00000373287.2:n.786-664G>T
ENST00000399451.6:c.1248-664G>T (ANKRD28)	ENSP00000382379.2:n.1248-664G>T
ENST00000412318.5:c.1248-664G>T (ANKRD28)	ENSP00000397341.1:n.1248-664G>T
ENST00000451422.1:c.1080-664G>T (ANKRD28)	ENSP00000394845.1:n.1080-664G>T
ENST00000492895.1:n.471-664G>T (ANKRD28)
ENST00000497037.5:n.1435-664G>T (ANKRD28)
ENST00000498524.5:n.1652-664G>T (ANKRD28)
ENST00000624145.3:c.786-664G>T (ANKRD28)	ENSP00000485421.1:n.786-664G>T
NM_001195098.1:c.786-664G>T (ANKRD28)	NP_001182027.1:n.786-664G>T
NM_001195099.1:c.786-664G>T (ANKRD28)	NP_001182028.1:n.786-664G>T
NM_015199.3:c.1248-664G>T (ANKRD28)	NP_056014.2:n.1248-664G>T
XM_005264996.2:c.1338-664G>T (ANKRD28)	XP_005265053.1:n.1338-664G>T
XM_011533540.1:c.1347-664G>T (ANKRD28)	XP_011531842.1:n.1347-664G>T
XM_011533541.1:c.1347-664G>T (ANKRD28)	XP_011531843.1:n.1347-664G>T
XM_011533542.1:c.1164-664G>T (ANKRD28)	XP_011531844.1:n.1164-664G>T
XM_011533543.1:c.1146-664G>T (ANKRD28)	XP_011531845.1:n.1146-664G>T
XM_011533544.1:c.1080-664G>T (ANKRD28)	XP_011531846.1:n.1080-664G>T
XM_011533545.1:c.1080-664G>T (ANKRD28)	XP_011531847.1:n.1080-664G>T
XM_011533546.1:c.1080-664G>T (ANKRD28)	XP_011531848.1:n.1080-664G>T
XM_011533547.1:c.1080-664G>T (ANKRD28)	XP_011531849.1:n.1080-664G>T
XM_011533548.1:c.1347-664G>T (ANKRD28)	XP_011531850.1:n.1347-664G>T
XM_011533549.1:c.1347-664G>T (ANKRD28)	XP_011531851.1:n.1347-664G>T
XM_011533550.1:c.1347-664G>T (ANKRD28)	XP_011531852.1:n.1347-664G>T
XM_011533551.1:c.786-664G>T (ANKRD28)	XP_011531853.1:n.786-664G>T
NM_001349277.1:c.1347-664G>T (ANKRD28)	NP_001336206.1:n.1347-664G>T
NM_001349278.1:c.1338-664G>T (ANKRD28)	NP_001336207.1:n.1338-664G>T
NM_001349279.1:c.1239-664G>T (ANKRD28)	NP_001336208.1:n.1239-664G>T
NM_001349280.1:c.1080-664G>T (ANKRD28)	NP_001336209.1:n.1080-664G>T
NM_001349281.1:c.1080-664G>T (ANKRD28)	NP_001336210.1:n.1080-664G>T
NM_001349282.1:c.1080-664G>T (ANKRD28)	NP_001336211.1:n.1080-664G>T
NM_001349283.1:c.786-664G>T (ANKRD28)	NP_001336212.1:n.786-664G>T
NR_146111.1:n.1390-664G>T (ANKRD28)
NR_146112.1:n.3001-664G>T (ANKRD28)
XM_011533541.3:c.1290-664G>T (ANKRD28)	XP_011531843.2:n.1290-664G>T
XM_011533542.3:c.1164-664G>T (ANKRD28)	XP_011531844.1:n.1164-664G>T
XM_011533547.3:c.1080-664G>T (ANKRD28)	XP_011531849.1:n.1080-664G>T
XM_017006029.1:c.132-664G>T (ANKRD28)	XP_016861518.1:n.132-664G>T
XM_024453418.1:c.1290-664G>T (ANKRD28)	XP_024309186.1:n.1290-664G>T
XM_024453419.1:c.1281-664G>T (ANKRD28)	XP_024309187.1:n.1281-664G>T
XM_024453420.1:c.1089-664G>T (ANKRD28)	XP_024309188.1:n.1089-664G>T
XM_024453421.1:c.1080-664G>T (ANKRD28)	XP_024309189.1:n.1080-664G>T
XM_024453422.1:c.1080-664G>T (ANKRD28)	XP_024309190.1:n.1080-664G>T
XM_024453423.1:c.1080-664G>T (ANKRD28)	XP_024309191.1:n.1080-664G>T
XM_024453424.1:c.1080-664G>T (ANKRD28)	XP_024309192.1:n.1080-664G>T
XR_001740071.2:n.1545-664G>T (ANKRD28)
XR_002959503.1:n.1543-664G>T (ANKRD28)
NM_001195099.2:c.786-664G>T (ANKRD28)	NP_001182028.1:n.786-664G>T
NM_001349277.2:c.1347-664G>T (ANKRD28)	NP_001336206.1:n.1347-664G>T
NM_001349278.2:c.1338-664G>T (ANKRD28) MANE Select	NP_001336207.1:n.1338-664G>T
NM_001349279.2:c.1239-664G>T (ANKRD28)	NP_001336208.1:n.1239-664G>T
NM_001349281.2:c.1080-664G>T (ANKRD28)	NP_001336210.1:n.1080-664G>T
NM_001349282.2:c.1080-664G>T (ANKRD28)	NP_001336211.1:n.1080-664G>T
NM_001349283.2:c.786-664G>T (ANKRD28)	NP_001336212.1:n.786-664G>T
NM_001370752.1:c.1016-11370C>A (BTD)	NP_001357681.1:n.1016-11370C>A
NM_001370753.1:c.401C>A (BTD)	NP_001357682.1:p.Ala134Glu
NM_015199.4:c.1248-664G>T (ANKRD28)	NP_056014.2:n.1248-664G>T
NR_146112.2:n.2796-664G>T (ANKRD28)