Canonical Allele Identifier: CA400192896

Gene: COL1A1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50186021C>T , CM000679.2:g.50186021C>T	GRCh38
NC_000017.10:g.48263382C>T , CM000679.1:g.48263382C>T	GRCh37
NC_000017.9:g.45618381C>T	NCBI36
NG_007400.1:g.20619G>A , LRG_1:g.20619G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000088.4:c.4006-1G>A MANE Select	NP_000079.2:n.4006-1G>A
ENST00000225964.10:c.4006-1G>A MANE Select	ENSP00000225964.6:n.4006-1G>A
NM_000088.3:c.4006-1G>A , LRG_1t1:c.4006-1G>A	NP_000079.2:n.4006-1G>A
ENST00000225964.9:c.4006-1G>A	ENSP00000225964.5:n.4006-1G>A
ENST00000510710.3:n.970G>A
XM_005257058.3:c.3736-1G>A	XP_005257115.2:n.3736-1G>A
XM_005257058.4:c.3736-1G>A	XP_005257115.2:n.3736-1G>A
XM_005257059.3:c.3088-1G>A	XP_005257116.2:n.3088-1G>A
XM_005257059.4:c.3088-1G>A	XP_005257116.2:n.3088-1G>A
XM_011524341.1:c.3808-1G>A	XP_011522643.1:n.3808-1G>A