Canonical Allele Identifier: CA394884673

Gene: ABCC6

Linked Data

• MyVariant Identifiers: chr16:g.16248593G>T (hg19) ; chr16:g.16154736G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16154736G>T , CM000678.2:g.16154736G>T	GRCh38
NC_000016.9:g.16248593G>T , CM000678.1:g.16248593G>T	GRCh37
NC_000016.8:g.16156094G>T	NCBI36
NG_007558.2:g.73736C>A
NG_007558.3:g.73882C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000576204.6:n.963C>A
ENST00000622290.5:c.*272C>A	ENSP00000483331.2:n.*272C>A
ENST00000205557.12:c.4100C>A MANE Select	ENSP00000205557.7:p.Ser1367Ter
ENST00000640696.1:c.914C>A	ENSP00000492197.1:p.Ser305Ter
ENST00000205557.11:c.4100C>A	ENSP00000205557.7:p.Ser1367Ter
ENST00000456970.6:c.3725C>A	ENSP00000405002.2:n.3725C>A
ENST00000576204.5:n.963C>A
ENST00000622290.4:c.*1309C>A	ENSP00000483331.1:n.*1309C>A
NM_001171.5:c.4100C>A	NP_001162.4:p.Ser1367Ter
XM_011522479.1:c.4067C>A	XP_011520781.1:p.Ser1356Ter
XM_011522480.1:c.3758C>A	XP_011520782.1:p.Ser1253Ter
XM_011522481.1:c.3758C>A	XP_011520783.1:p.Ser1253Ter
XR_933134.1:n.539-5045G>T
NM_001351800.1:c.3758C>A	NP_001338729.1:p.Ser1253Ter
NR_147784.1:n.3762C>A
XM_011522479.2:c.4067C>A	XP_011520781.1:p.Ser1356Ter
XM_011522481.3:c.3758C>A	XP_011520783.1:p.Ser1253Ter
XM_017023212.1:c.3932C>A	XP_016878701.1:p.Ser1311Ter
XM_024450261.1:c.4136C>A	XP_024306029.1:p.Ser1379Ter
NM_001171.6:c.4100C>A MANE Select	NP_001162.5:p.Ser1367Ter