Canonical Allele Identifier: CA394878782

Gene: ABCC6

Linked Data

• MyVariant Identifiers: chr16:g.16253392T>A (hg19) ; chr16:g.16159535T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16159535T>A , CM000678.2:g.16159535T>A	GRCh38
NC_000016.9:g.16253392T>A , CM000678.1:g.16253392T>A	GRCh37
NC_000016.8:g.16160893T>A	NCBI36
NG_007558.2:g.68937A>T
NG_007558.3:g.69083A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000622290.5:c.3682A>T	ENSP00000483331.2:p.Asn1228Tyr
ENST00000205557.12:c.3682A>T MANE Select	ENSP00000205557.7:p.Asn1228Tyr
ENST00000640696.1:c.496A>T	ENSP00000492197.1:p.Asn166Tyr
ENST00000205557.11:c.3682A>T	ENSP00000205557.7:p.Asn1228Tyr
ENST00000456970.6:c.3307A>T	ENSP00000405002.2:n.3307A>T
ENST00000622290.4:c.*891A>T	ENSP00000483331.1:n.*891A>T
NM_001171.5:c.3682A>T	NP_001162.4:p.Asn1228Tyr
XM_011522479.1:c.3649A>T	XP_011520781.1:p.Asn1217Tyr
XM_011522480.1:c.3340A>T	XP_011520782.1:p.Asn1114Tyr
XM_011522481.1:c.3340A>T	XP_011520783.1:p.Asn1114Tyr
XR_932836.1:n.3917A>T
XR_932837.1:n.3718A>T
XR_932838.1:n.3718A>T
XR_933134.1:n.539-246T>A
NM_001351800.1:c.3340A>T	NP_001338729.1:p.Asn1114Tyr
NR_147784.1:n.3344A>T
XM_011522479.2:c.3649A>T	XP_011520781.1:p.Asn1217Tyr
XM_011522481.3:c.3340A>T	XP_011520783.1:p.Asn1114Tyr
XM_017023212.1:c.3514A>T	XP_016878701.1:p.Asn1172Tyr
XM_024450261.1:c.3718A>T	XP_024306029.1:p.Asn1240Tyr
XR_932836.2:n.3863A>T
XR_932837.3:n.3663A>T
XR_932838.3:n.3663A>T
NM_001171.6:c.3682A>T MANE Select	NP_001162.5:p.Asn1228Tyr