Canonical Allele Identifier: CA400192019

Gene: COL1A1

Linked Data

• MyVariant Identifiers: chr17:g.48263256C>T (hg19) ; chr17:g.50185895C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50185895C>T , CM000679.2:g.50185895C>T	GRCh38
NC_000017.10:g.48263256C>T , CM000679.1:g.48263256C>T	GRCh37
NC_000017.9:g.45618255C>T	NCBI36
NG_007400.1:g.20745G>A , LRG_1:g.20745G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.4131G>A MANE Select	ENSP00000225964.6:p.Met1377Ile
ENST00000225964.9:c.4131G>A	ENSP00000225964.5:p.Met1377Ile
ENST00000510710.3:n.1096G>A
NM_000088.3:c.4131G>A , LRG_1t1:c.4131G>A	NP_000079.2:p.Met1377Ile
XM_005257058.3:c.3861G>A	XP_005257115.2:p.Met1287Ile
XM_005257059.3:c.3213G>A	XP_005257116.2:p.Met1071Ile
XM_011524341.1:c.3933G>A	XP_011522643.1:p.Met1311Ile
XM_005257058.4:c.3861G>A	XP_005257115.2:p.Met1287Ile
XM_005257059.4:c.3213G>A	XP_005257116.2:p.Met1071Ile
NM_000088.4:c.4131G>A MANE Select	NP_000079.2:p.Met1377Ile