Canonical Allele Identifier: CA394887730

Gene: ABCC6

Linked Data

• MyVariant Identifiers: chr16:g.16271417T>A (hg19) ; chr16:g.16177560T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16177560T>A , CM000678.2:g.16177560T>A	GRCh38
NC_000016.9:g.16271417T>A , CM000678.1:g.16271417T>A	GRCh37
NC_000016.8:g.16178918T>A	NCBI36
NG_007558.2:g.50912A>T
NG_007558.3:g.51058A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000622290.5:c.2482A>T	ENSP00000483331.2:p.Asn828Tyr
ENST00000205557.12:c.2482A>T MANE Select	ENSP00000205557.7:p.Asn828Tyr
ENST00000205557.11:c.2482A>T	ENSP00000205557.7:p.Asn828Tyr
ENST00000456970.6:c.2415+1238A>T	ENSP00000405002.2:n.2415+1238A>T
ENST00000622290.4:c.2415+1238A>T	ENSP00000483331.1:n.2415+1238A>T
NM_001171.5:c.2482A>T	NP_001162.4:p.Asn828Tyr
XM_011522479.1:c.2449A>T	XP_011520781.1:p.Asn817Tyr
XM_011522480.1:c.2140A>T	XP_011520782.1:p.Asn714Tyr
XM_011522481.1:c.2140A>T	XP_011520783.1:p.Asn714Tyr
XM_011522482.1:c.2482A>T	XP_011520784.1:p.Asn828Tyr
XR_932836.1:n.2717A>T
XR_932837.1:n.2718A>T
XR_932838.1:n.2718A>T
NM_001351800.1:c.2140A>T	NP_001338729.1:p.Asn714Tyr
NR_147784.1:n.2452+1238A>T
XM_011522479.2:c.2449A>T	XP_011520781.1:p.Asn817Tyr
XM_011522481.3:c.2140A>T	XP_011520783.1:p.Asn714Tyr
XM_011522482.3:c.2482A>T	XP_011520784.1:p.Asn828Tyr
XM_017023212.1:c.2314A>T	XP_016878701.1:p.Asn772Tyr
XM_017023214.1:c.2482A>T	XP_016878703.1:p.Asn828Tyr
XM_024450261.1:c.2518A>T	XP_024306029.1:p.Asn840Tyr
XR_932836.2:n.2663A>T
XR_932837.3:n.2663A>T
XR_932838.3:n.2663A>T
NM_001171.6:c.2482A>T MANE Select	NP_001162.5:p.Asn828Tyr