Canonical Allele Identifier: CA394875841

Gene: ABCC6

Linked Data

• gnomAD v4: 16-16154970-A-G
• MyVariant Identifiers: chr16:g.16248827A>G (hg19) ; chr16:g.16154970A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16154970A>G , CM000678.2:g.16154970A>G	GRCh38
NC_000016.9:g.16248827A>G , CM000678.1:g.16248827A>G	GRCh37
NC_000016.8:g.16156328A>G	NCBI36
NG_007558.2:g.73502T>C
NG_007558.3:g.73648T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000576204.6:n.807T>C
ENST00000622290.5:c.*116T>C	ENSP00000483331.2:n.*116T>C
ENST00000205557.12:c.3944T>C MANE Select	ENSP00000205557.7:p.Leu1315Pro
ENST00000640696.1:c.758T>C	ENSP00000492197.1:p.Leu253Pro
ENST00000205557.11:c.3944T>C	ENSP00000205557.7:p.Leu1315Pro
ENST00000456970.6:c.3569T>C	ENSP00000405002.2:n.3569T>C
ENST00000576204.5:n.807T>C
ENST00000622290.4:c.*1153T>C	ENSP00000483331.1:n.*1153T>C
NM_001171.5:c.3944T>C	NP_001162.4:p.Leu1315Pro
XM_011522479.1:c.3911T>C	XP_011520781.1:p.Leu1304Pro
XM_011522480.1:c.3602T>C	XP_011520782.1:p.Leu1201Pro
XM_011522481.1:c.3602T>C	XP_011520783.1:p.Leu1201Pro
XR_932836.1:n.4242T>C
XR_932837.1:n.3980T>C
XR_932838.1:n.4043T>C
XR_933134.1:n.539-4811A>G
NM_001351800.1:c.3602T>C	NP_001338729.1:p.Leu1201Pro
NR_147784.1:n.3606T>C
XM_011522479.2:c.3911T>C	XP_011520781.1:p.Leu1304Pro
XM_011522481.3:c.3602T>C	XP_011520783.1:p.Leu1201Pro
XM_017023212.1:c.3776T>C	XP_016878701.1:p.Leu1259Pro
XM_024450261.1:c.3980T>C	XP_024306029.1:p.Leu1327Pro
XR_932837.3:n.3925T>C
XR_932838.3:n.3988T>C
NM_001171.6:c.3944T>C MANE Select	NP_001162.5:p.Leu1315Pro