Canonical Allele Identifier: CA8644348

Gene: COL1A1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50186645T>G , CM000679.2:g.50186645T>G	GRCh38
NC_000017.10:g.48264006T>G , CM000679.1:g.48264006T>G	GRCh37
NC_000017.9:g.45619005T>G	NCBI36
NG_007400.1:g.19995A>C , LRG_1:g.19995A>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000088.4:c.3809A>C MANE Select	NP_000079.2:p.Lys1270Thr
ENST00000225964.10:c.3809A>C MANE Select	ENSP00000225964.6:p.Lys1270Thr
NM_000088.3:c.3809A>C , LRG_1t1:c.3809A>C	NP_000079.2:p.Lys1270Thr
ENST00000225964.9:c.3809A>C	ENSP00000225964.5:p.Lys1270Thr
ENST00000510710.3:n.478A>C
XM_005257058.3:c.3539A>C	XP_005257115.2:p.Lys1180Thr
XM_005257058.4:c.3539A>C	XP_005257115.2:p.Lys1180Thr
XM_005257059.3:c.2891A>C	XP_005257116.2:p.Lys964Thr
XM_005257059.4:c.2891A>C	XP_005257116.2:p.Lys964Thr
XM_011524341.1:c.3611A>C	XP_011522643.1:p.Lys1204Thr