Canonical Allele Identifier: CA394878730

Gene: ABCC6

Linked Data

• MyVariant Identifiers: chr16:g.16253367A>C (hg19) ; chr16:g.16159510A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16159510A>C , CM000678.2:g.16159510A>C	GRCh38
NC_000016.9:g.16253367A>C , CM000678.1:g.16253367A>C	GRCh37
NC_000016.8:g.16160868A>C	NCBI36
NG_007558.2:g.68962T>G
NG_007558.3:g.69108T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000622290.5:c.3707T>G	ENSP00000483331.2:p.Met1236Arg
ENST00000205557.12:c.3707T>G MANE Select	ENSP00000205557.7:p.Met1236Arg
ENST00000640696.1:c.521T>G	ENSP00000492197.1:p.Met174Arg
ENST00000205557.11:c.3707T>G	ENSP00000205557.7:p.Met1236Arg
ENST00000456970.6:c.3332T>G	ENSP00000405002.2:n.3332T>G
ENST00000622290.4:c.*916T>G	ENSP00000483331.1:n.*916T>G
NM_001171.5:c.3707T>G	NP_001162.4:p.Met1236Arg
XM_011522479.1:c.3674T>G	XP_011520781.1:p.Met1225Arg
XM_011522480.1:c.3365T>G	XP_011520782.1:p.Met1122Arg
XM_011522481.1:c.3365T>G	XP_011520783.1:p.Met1122Arg
XR_932836.1:n.3942T>G
XR_932837.1:n.3743T>G
XR_932838.1:n.3743T>G
XR_933134.1:n.539-271A>C
NM_001351800.1:c.3365T>G	NP_001338729.1:p.Met1122Arg
NR_147784.1:n.3369T>G
XM_011522479.2:c.3674T>G	XP_011520781.1:p.Met1225Arg
XM_011522481.3:c.3365T>G	XP_011520783.1:p.Met1122Arg
XM_017023212.1:c.3539T>G	XP_016878701.1:p.Met1180Arg
XM_024450261.1:c.3743T>G	XP_024306029.1:p.Met1248Arg
XR_932836.2:n.3888T>G
XR_932837.3:n.3688T>G
XR_932838.3:n.3688T>G
NM_001171.6:c.3707T>G MANE Select	NP_001162.5:p.Met1236Arg