Canonical Allele Identifier: CA394876174

Gene: ABCC6

Linked Data

• MyVariant Identifiers: chr16:g.16248869G>T (hg19) ; chr16:g.16155012G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16155012G>T , CM000678.2:g.16155012G>T	GRCh38
NC_000016.9:g.16248869G>T , CM000678.1:g.16248869G>T	GRCh37
NC_000016.8:g.16156370G>T	NCBI36
NG_007558.2:g.73460C>A
NG_007558.3:g.73606C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000576204.6:n.765C>A
ENST00000622290.5:c.*74C>A	ENSP00000483331.2:n.*74C>A
ENST00000205557.12:c.3902C>A MANE Select	ENSP00000205557.7:p.Thr1301Asn
ENST00000640696.1:c.716C>A	ENSP00000492197.1:p.Thr239Asn
ENST00000205557.11:c.3902C>A	ENSP00000205557.7:p.Thr1301Asn
ENST00000456970.6:c.3527C>A	ENSP00000405002.2:n.3527C>A
ENST00000576204.5:n.765C>A
ENST00000622290.4:c.*1111C>A	ENSP00000483331.1:n.*1111C>A
NM_001171.5:c.3902C>A	NP_001162.4:p.Thr1301Asn
XM_011522479.1:c.3869C>A	XP_011520781.1:p.Thr1290Asn
XM_011522480.1:c.3560C>A	XP_011520782.1:p.Thr1187Asn
XM_011522481.1:c.3560C>A	XP_011520783.1:p.Thr1187Asn
XR_932836.1:n.4200C>A
XR_932837.1:n.3938C>A
XR_932838.1:n.4001C>A
XR_933134.1:n.539-4769G>T
NM_001351800.1:c.3560C>A	NP_001338729.1:p.Thr1187Asn
NR_147784.1:n.3564C>A
XM_011522479.2:c.3869C>A	XP_011520781.1:p.Thr1290Asn
XM_011522481.3:c.3560C>A	XP_011520783.1:p.Thr1187Asn
XM_017023212.1:c.3734C>A	XP_016878701.1:p.Thr1245Asn
XM_024450261.1:c.3938C>A	XP_024306029.1:p.Thr1313Asn
XR_932836.2:n.4146C>A
XR_932837.3:n.3883C>A
XR_932838.3:n.3946C>A
NM_001171.6:c.3902C>A MANE Select	NP_001162.5:p.Thr1301Asn