Canonical Allele Identifier: CA2263918934
Gene: COL1A1 HGNC NCBI

Linked Data

dbSNP Id: rs1907533793
gnomAD v4: 17-50195841-G-C
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.50195841G>C , CM000679.2:g.50195841G>C GRCh38
NC_000017.10:g.48273202G>C , CM000679.1:g.48273202G>C GRCh37
NC_000017.9:g.45628201G>C NCBI36
NG_007400.1:g.10799C>G , LRG_1:g.10799C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000225964.10:c.1056+82C>G MANE Select ENSP00000225964.6:n.1056+82C>G
ENST00000225964.9:c.1056+82C>G ENSP00000225964.5:n.1056+82C>G
NM_000088.3:c.1056+82C>G , LRG_1t1:c.1056+82C>G NP_000079.2:n.1056+82C>G
XM_005257058.3:c.1056+82C>G XP_005257115.2:n.1056+82C>G
XM_005257059.3:c.957+473C>G XP_005257116.2:n.957+473C>G
XM_011524341.1:c.958-363C>G XP_011522643.1:n.958-363C>G
XM_005257058.4:c.1056+82C>G XP_005257115.2:n.1056+82C>G
XM_005257059.4:c.957+473C>G XP_005257116.2:n.957+473C>G
NM_000088.4:c.1056+82C>G MANE Select NP_000079.2:n.1056+82C>G
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