Canonical Allele Identifier: CA8644629

Gene: COL1A1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50189004G>T , CM000679.2:g.50189004G>T	GRCh38
NC_000017.10:g.48266365G>T , CM000679.1:g.48266365G>T	GRCh37
NC_000017.9:g.45621364G>T	NCBI36
NG_007400.1:g.17636C>A , LRG_1:g.17636C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.2944C>A MANE Select	ENSP00000225964.6:p.Pro982Thr
ENST00000225964.9:c.2944C>A	ENSP00000225964.5:p.Pro982Thr
NM_000088.3:c.2944C>A , LRG_1t1:c.2944C>A	NP_000079.2:p.Pro982Thr
XM_005257058.3:c.2674C>A	XP_005257115.2:p.Pro892Thr
XM_005257059.3:c.2026C>A	XP_005257116.2:p.Pro676Thr
XM_011524341.1:c.2746C>A	XP_011522643.1:p.Pro916Thr
XM_005257058.4:c.2674C>A	XP_005257115.2:p.Pro892Thr
XM_005257059.4:c.2026C>A	XP_005257116.2:p.Pro676Thr
NM_000088.4:c.2944C>A MANE Select	NP_000079.2:p.Pro982Thr