Canonical Allele Identifier: CA394878734

Gene: ABCC6

Linked Data

• MyVariant Identifiers: chr16:g.16253368T>C (hg19) ; chr16:g.16159511T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16159511T>C , CM000678.2:g.16159511T>C	GRCh38
NC_000016.9:g.16253368T>C , CM000678.1:g.16253368T>C	GRCh37
NC_000016.8:g.16160869T>C	NCBI36
NG_007558.2:g.68961A>G
NG_007558.3:g.69107A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000622290.5:c.3706A>G	ENSP00000483331.2:p.Met1236Val
ENST00000205557.12:c.3706A>G MANE Select	ENSP00000205557.7:p.Met1236Val
ENST00000640696.1:c.520A>G	ENSP00000492197.1:p.Met174Val
ENST00000205557.11:c.3706A>G	ENSP00000205557.7:p.Met1236Val
ENST00000456970.6:c.3331A>G	ENSP00000405002.2:n.3331A>G
ENST00000622290.4:c.*915A>G	ENSP00000483331.1:n.*915A>G
NM_001171.5:c.3706A>G	NP_001162.4:p.Met1236Val
XM_011522479.1:c.3673A>G	XP_011520781.1:p.Met1225Val
XM_011522480.1:c.3364A>G	XP_011520782.1:p.Met1122Val
XM_011522481.1:c.3364A>G	XP_011520783.1:p.Met1122Val
XR_932836.1:n.3941A>G
XR_932837.1:n.3742A>G
XR_932838.1:n.3742A>G
XR_933134.1:n.539-270T>C
NM_001351800.1:c.3364A>G	NP_001338729.1:p.Met1122Val
NR_147784.1:n.3368A>G
XM_011522479.2:c.3673A>G	XP_011520781.1:p.Met1225Val
XM_011522481.3:c.3364A>G	XP_011520783.1:p.Met1122Val
XM_017023212.1:c.3538A>G	XP_016878701.1:p.Met1180Val
XM_024450261.1:c.3742A>G	XP_024306029.1:p.Met1248Val
XR_932836.2:n.3887A>G
XR_932837.3:n.3687A>G
XR_932838.3:n.3687A>G
NM_001171.6:c.3706A>G MANE Select	NP_001162.5:p.Met1236Val