Canonical Allele Identifier: CA2576317146

Gene: COL1A1

Linked Data

• gnomAD v4: 17-50188495-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50188495G>T , CM000679.2:g.50188495G>T	GRCh38
NC_000017.10:g.48265856G>T , CM000679.1:g.48265856G>T	GRCh37
NC_000017.9:g.45620855G>T	NCBI36
NG_007400.1:g.18145C>A , LRG_1:g.18145C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000225964.10:c.3207+35C>A MANE Select	ENSP00000225964.6:n.3207+35C>A
ENST00000225964.9:c.3207+35C>A	ENSP00000225964.5:n.3207+35C>A
ENST00000486572.1:n.60C>A
ENST00000511732.1:n.186C>A
NM_000088.3:c.3207+35C>A , LRG_1t1:c.3207+35C>A	NP_000079.2:n.3207+35C>A
XM_005257058.3:c.2937+35C>A	XP_005257115.2:n.2937+35C>A
XM_005257059.3:c.2289+35C>A	XP_005257116.2:n.2289+35C>A
XM_011524341.1:c.3009+35C>A	XP_011522643.1:n.3009+35C>A
XM_005257058.4:c.2937+35C>A	XP_005257115.2:n.2937+35C>A
XM_005257059.4:c.2289+35C>A	XP_005257116.2:n.2289+35C>A
NM_000088.4:c.3207+35C>A MANE Select	NP_000079.2:n.3207+35C>A