Canonical Allele Identifier: CA394875611

Gene: ABCC6

Linked Data

• gnomAD v4: 16-16154929-G-T
• MyVariant Identifiers: chr16:g.16248786G>T (hg19) ; chr16:g.16154929G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16154929G>T , CM000678.2:g.16154929G>T	GRCh38
NC_000016.9:g.16248786G>T , CM000678.1:g.16248786G>T	GRCh37
NC_000016.8:g.16156287G>T	NCBI36
NG_007558.2:g.73543C>A
NG_007558.3:g.73689C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000576204.6:n.848C>A
ENST00000622290.5:c.*157C>A	ENSP00000483331.2:n.*157C>A
ENST00000205557.12:c.3985C>A MANE Select	ENSP00000205557.7:p.Pro1329Thr
ENST00000640696.1:c.799C>A	ENSP00000492197.1:p.Pro267Thr
ENST00000205557.11:c.3985C>A	ENSP00000205557.7:p.Pro1329Thr
ENST00000456970.6:c.3610C>A	ENSP00000405002.2:n.3610C>A
ENST00000576204.5:n.848C>A
ENST00000622290.4:c.*1194C>A	ENSP00000483331.1:n.*1194C>A
NM_001171.5:c.3985C>A	NP_001162.4:p.Pro1329Thr
XM_011522479.1:c.3952C>A	XP_011520781.1:p.Pro1318Thr
XM_011522480.1:c.3643C>A	XP_011520782.1:p.Pro1215Thr
XM_011522481.1:c.3643C>A	XP_011520783.1:p.Pro1215Thr
XR_933134.1:n.539-4852G>T
NM_001351800.1:c.3643C>A	NP_001338729.1:p.Pro1215Thr
NR_147784.1:n.3647C>A
XM_011522479.2:c.3952C>A	XP_011520781.1:p.Pro1318Thr
XM_011522481.3:c.3643C>A	XP_011520783.1:p.Pro1215Thr
XM_017023212.1:c.3817C>A	XP_016878701.1:p.Pro1273Thr
XM_024450261.1:c.4021C>A	XP_024306029.1:p.Pro1341Thr
NM_001171.6:c.3985C>A MANE Select	NP_001162.5:p.Pro1329Thr